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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Enzymes Metabolic proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
16
Cytoband
q22.1
Chromosome location (bp)
69706996 - 69726668
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Flavin-containing quinone reductase that catalyzes two-electron reduction of quinones to hydroquinones using either NADH or NADPH as electron donors. In a ping-pong kinetic mechanism, the electrons are sequentially transferred from NAD(P)H to flavin cofactor and then from reduced flavin to the quinone, bypassing the formation of semiquinone and reactive oxygen species (By similarity) 1,2. Regulates cellular redox state primarily through quinone detoxification. Reduces components of plasma membrane redox system such as coenzyme Q and vitamin quinones, producing antioxidant hydroquinone forms. In the process may function as superoxide scavenger to prevent hydroquinone oxidation and facilitate excretion 3,4,5. Alternatively, can activate quinones and their derivatives by generating redox reactive hydroquinones with DNA cross-linking antitumor potential 6. Acts as a gatekeeper of the core 20S proteasome known to degrade proteins with unstructured regions. Upon oxidative stress, interacts with tumor suppressors TP53 and TP73 in a NADH-dependent way and inhibits their ubiquitin-independent degradation by the 20S proteasome 7,8....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
FAD, Flavoprotein, NAD, NADP
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0003723[RNA binding] GO:0003955[NAD(P)H dehydrogenase (quinone) activity] GO:0004128[cytochrome-b5 reductase activity, acting on NAD(P)H] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006743[ubiquinone metabolic process] GO:0006805[xenobiotic metabolic process] GO:0006809[nitric oxide biosynthetic process] GO:0006979[response to oxidative stress] GO:0007271[synaptic transmission, cholinergic] GO:0008753[NADPH dehydrogenase (quinone) activity] GO:0009636[response to toxic substance] GO:0016491[oxidoreductase activity] GO:0019430[removal of superoxide radicals] GO:0034599[cellular response to oxidative stress] GO:0042177[negative regulation of protein catabolic process] GO:0042360[vitamin E metabolic process] GO:0042373[vitamin K metabolic process] GO:0042802[identical protein binding] GO:0045202[synapse] GO:0045454[cell redox homeostasis] GO:0050136[NADH dehydrogenase (quinone) activity]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003723[RNA binding] GO:0003955[NAD(P)H dehydrogenase (quinone) activity] GO:0004128[cytochrome-b5 reductase activity, acting on NAD(P)H] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006743[ubiquinone metabolic process] GO:0006805[xenobiotic metabolic process] GO:0006809[nitric oxide biosynthetic process] GO:0006979[response to oxidative stress] GO:0007271[synaptic transmission, cholinergic] GO:0008753[NADPH dehydrogenase (quinone) activity] GO:0009636[response to toxic substance] GO:0016491[oxidoreductase activity] GO:0019430[removal of superoxide radicals] GO:0034599[cellular response to oxidative stress] GO:0042177[negative regulation of protein catabolic process] GO:0042360[vitamin E metabolic process] GO:0042373[vitamin K metabolic process] GO:0042802[identical protein binding] GO:0045202[synapse] GO:0045454[cell redox homeostasis] GO:0050136[NADH dehydrogenase (quinone) activity]
The Human Protein Atlas project is funded
