NQO1 NAD(P)H dehydrogenase, quinone 1 [Homo sapiens (human)] - Gene

Summary

Go to the top of the page Help

Official Symbol: NQO1provided by HGNC
Official Full Name: NAD(P)H dehydrogenase, quinone 1provided by HGNC
Primary source: HGNC:2874
See related: Ensembl:ENSG00000181019; HPRD:00518; MIM:125860; Vega:OTTHUMG00000137575
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DTD; QR1; DHQU; DIA4; NMOR1; NMORI
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]

Genomic context

Go to the top of the page Help

Location :: 16q22.1

Sequence :: Chromosome: 16; NC_000016.9 (69743304..69760533, complement)

See NQO1 in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions What's a GeneRIF?

C/C-G/T combined genotype of the rs1800566 and rs1799983 polymorphisms was positively correlated with a reduced risk of age-related macular degeneration as well as of its dry form[review]
Title: Association between polymorphism of the NQO1, NOS3 and NFE2L2 genes and AMD.
results do not support an association between the protein p53 and its regulator NQO1 studied polymorphisms and schizophrenia in the Syrian population
Title: Association between polymorphisms in the genes for tumor suppressor protein p53 and its regulator NAD(P)H: quinone oxidoreductase 1 (NQO1) and schizophrenia in a Syrian study cohort.
In our cohort of inner-city Hispanic-Americans, the CYP4F2 and NQO1*2 genotypes significantly contributed to warfarin dose requirements
Title: Effect of NQO1 and CYP4F2 genotypes on warfarin dose requirements in Hispanic-Americans and African-Americans.
The NQO1 rs1800566 (C609T), PON1 rs854560 (L55M), and PON1 rs662 (Q192R) polymorphisms modified risk depending on leukemia subtype (decreased in AML, increased and decreased in ALL, respectively), age strata, and variant genotype combinations.
Title: NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphisms segregate the risk of childhood acute leukemias according to age range distribution.
NADPH:quinone oxidoreductase 1 regulates host susceptibility to ozone via isoprostane generation
Title: NADPH:quinone oxidoreductase 1 regulates host susceptibility to ozone via isoprostane generation.
The increased risk for esophageal squamous cell carcinoma (ESCC) was significantly associated with reduced expression of GSTP1, MTHFR, and NQO1, and GSTP1 mRNA showed a steady association with the risk for ESCC in China.
Title: Association between gene expression of metabolizing enzymes and esophageal squamous cell carcinomas in China.
No association between NADPH quinone oxidoreductase 1 (NQO1) gene C609T polymorphism and lung cancer in a Chinese case-control study and a larger meta-analysis.
Title: Lack of association between NADPH quinone oxidoreductase 1 (NQO1) gene C609T polymorphism and lung cancer: a case-control study and a meta-analysis.
Diplotypes of NQO1 (exon 4 and 6), C-T (OR = 1.56, Pc = 0.007) and T-T (OR = 0.011, Pc = 3.86) was associated with an increased risk for prostate cancer (PCa). NQO2 and MTHFR did not show any risk with PCa.
Title: Genetic variants in metabolizing genes NQO1, NQO2, MTHFR and risk of prostate cancer: a study from North India.
the NQO1 C609T polymorphism may play a role in the development of hepatocellular carcinoma in Chinese population, especially among HbsAg-positive individuals
Title: A functional NQO1 609C>T polymorphism and risk of hepatocellular carcinoma in a Chinese population.
concurrent over-expression of CYP2E1 and NQO1 mRNA in acute myeloid leukemia with inv(16)
Title: Over-expression of CYP2E1 mRNA and protein: implications of xenobiotic induced damage in patients with de novo acute myeloid leukemia with inv(16)(p13.1q22); CBFβ-MYH11.

Submit: New GeneRIF Correction See all (207)

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

HIV-1 protein interactions

Go to the top of the page Help

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 significantly upregulates Nrf2 in human astrocytes and is associated with increased levels of key antioxidant defensive enzymes Hemoxygenase (HO-1) and NAD(P)H dehydrogenase quinone1 (Nqo1)	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Source	Pubs	Description
P15559	P25685	DNAJB1	HPRD	PubMed
P15559	Heat shock 70 KD protein 1A	HSPA1A	HPRD	PubMed
P15559	P15559	NQO1	HPRD	PubMed
P15559	P04637	TP53	HPRD	PubMed
BioGRID:108072	BioGRID:108621	FN1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108072	BioGRID:109540	HSPA4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108072	BioGRID:109833	ING1	BioGRID	PubMed	Reconstituted Complex
BioGRID:108072	BioGRID:109883	ITGA4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108072	BioGRID:110106	LAMB1	BioGRID	PubMed	Co-fractionation
BioGRID:108072	BioGRID:108072	NQO1	BioGRID	PubMed	Co-crystal Structure
BioGRID:108072	BioGRID:123998	POLDIP3	BioGRID	PubMed	Co-fractionation
BioGRID:108072	BioGRID:125006	RPS10P5	BioGRID	PubMed	Co-fractionation
BioGRID:108072	BioGRID:112137	RPS19	BioGRID	PubMed	Co-fractionation
BioGRID:108072	BioGRID:115563	STUB1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:108072	BioGRID:113010	TP53	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108072	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108072	BioGRID:120257	YTHDF1	BioGRID	PubMed	Co-fractionation

Pathways from BioSystems

Go to the top of the page Help

AhR pathway, organism-specific biosystem (from WikiPathways)
AhR pathway, organism-specific biosystem
AhR pathway
Estrogen metabolism, organism-specific biosystem (from WikiPathways)
Estrogen metabolism, organism-specific biosystem
Estrogen metabolism
Keap1-Nrf2 Pathway, organism-specific biosystem (from WikiPathways)
Keap1-Nrf2 Pathway, organism-specific biosystemBased on [http://www.nature.com/nrc/journal/v3/n10/fig_tab/nrc1189_F4.html Surh, 2003, figure 4].
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
Oxidative Stress, organism-specific biosystem (from WikiPathways)
Oxidative Stress, organism-specific biosystemOxidative stress represents an imbalance between the production and manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to rep...
Regulation of ornithine decarboxylase (ODC), organism-specific biosystem (from REACTOME)
Regulation of ornithine decarboxylase (ODC), organism-specific biosystemPolyamines increase the production of antizyme (AZ). The carboxy-terminal half of antizyme interacts with ODC, generating an inactive AZ:ODC heterodimer complex. A carboxy-terminal domain of ODC is ...
Ubiquinone and other terpenoid-quinone biosynthesis, organism-specific biosystem (from KEGG)
Ubiquinone and other terpenoid-quinone biosynthesis, organism-specific biosystemUbiquinone (UQ), also called coenzyme Q, and plastoquinone (PQ) are electron carriers in oxidative phosphorylation and photosynthesis, respectively. The quinoid nucleus of ubiquinone is derived from ...
Ubiquinone and other terpenoid-quinone biosynthesis, conserved biosystem (from KEGG)
Ubiquinone and other terpenoid-quinone biosynthesis, conserved biosystemUbiquinone (UQ), also called coenzyme Q, and plastoquinone (PQ) are electron carriers in oxidative phosphorylation and photosynthesis, respectively. The quinoid nucleus of ubiquinone is derived from ...

General gene information

Go to the top of the page Help

Markers

NQO1_2205 (e-PCR)
- UniSTS:280869

D8S2279 (e-PCR)
- UniSTS:473907

NQO1 (e-PCR)
- UniSTS:278844

SHGC-31516 (e-PCR)
- UniSTS:54590

RH68871 (e-PCR)
- UniSTS:27279

GDB:180917 (e-PCR)
- UniSTS:155122

Genotypes

See NQO1 SNP Geneview Report
See NQO1 SNP Genotype Report
See NQO1 SNP Variation Viewer Report

Homology

Homologs of the NQO1 gene: The NQO1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NAD(P)H dehydrogenase (quinone) activity	IEA Inferred from Electronic Annotation more info
cytochrome-b5 reductase activity, acting on NAD(P)H	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info
superoxide dismutase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
aging	IEA Inferred from Electronic Annotation more info
cellular nitrogen compound metabolic process	TAS Traceable Author Statement more info
negative regulation of catalytic activity	IEA Inferred from Electronic Annotation more info
nitric oxide biosynthetic process	TAS Traceable Author Statement more info	PubMed
positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
regulation of cellular amino acid metabolic process	TAS Traceable Author Statement more info
response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
response to ethanol	IEA Inferred from Electronic Annotation more info
response to nutrient	IEA Inferred from Electronic Annotation more info
response to oxidative stress	IEA Inferred from Electronic Annotation more info
response to toxic substance	TAS Traceable Author Statement more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
superoxide metabolic process	IEA Inferred from Electronic Annotation more info
synaptic transmission, cholinergic	TAS Traceable Author Statement more info	PubMed
xenobiotic metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info
cytosol	TAS Traceable Author Statement more info
neuronal cell body	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: NAD(P)H dehydrogenase [quinone] 1

Names: NAD(P)H dehydrogenase [quinone] 1; azoreductase; diaphorase-4; DT-diaphorase; dioxin-inducible 1; menadione reductase; quinone reductase 1; phylloquinone reductase; NAD(P)H:quinone oxireductase; NAD(P)H:quinone oxidoreductase 1; NAD(P)H:menadione oxidoreductase 1; NAD(P)H:Quinone acceptor oxidoreductase type 1; diaphorase (NADH/NADPH) (cytochrome b-5 reductase)

NP_000894.1

EC 1.6.5.2

NP_001020604.1

EC 1.6.5.2

NP_001020605.1

EC 1.6.5.2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011504.1 RefSeqGene

Range

5001..22230

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000903.2 → NP_000894.1 NAD(P)H dehydrogenase [quinone] 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AV729122, BC007659, BM052991, BM452267, BM787983, BM828301

Consensus CDS

CCDS10883.1

UniProtKB/Swiss-Prot

P15559

Related

ENSP00000319788, OTTHUMP00000174897, ENST00000320623, OTTHUMT00000268956

Conserved Domains (1) summary

pfam02525
Location:5 – 212
Blast Score: 392

Flavodoxin_2; Flavodoxin-like fold
NM_001025433.1 → NP_001020604.1 NAD(P)H dehydrogenase [quinone] 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform b) is shorter than isoform a.

Source sequence(s)

AV729122, BC000906, BC007659, BM052991, BM452267, BM787983, BM828301

Consensus CDS

CCDS32472.1

UniProtKB/Swiss-Prot

P15559

Related

ENSP00000368335, OTTHUMP00000174898, ENST00000379047, OTTHUMT00000268957

Conserved Domains (1) summary

pfam02525
Location:5 – 178
Blast Score: 292

Flavodoxin_2; Flavodoxin-like fold
NM_001025434.1 → NP_001020605.1 NAD(P)H dehydrogenase [quinone] 1 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform c) is shorter than isoform a.

Source sequence(s)

AV729122, BM052991, BM452267, BM787983, BM828301, CD014005

Consensus CDS

CCDS32471.1

UniProtKB/Swiss-Prot

P15559

Conserved Domains (1) summary

pfam02525
Location:5 – 174
Blast Score: 232

Flavodoxin_2; Flavodoxin-like fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p10 Primary Assembly

Range

69743304..69760533, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

55621397..55638606, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018927.1 Alternate CHM1_1.0

Range

70749950..70767181, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01025538.1 (2041..19250)	None
genomic	AC092115.2 (113427..130656)	None
genomic	AMYH01007770.1 (21174..38405)	None
genomic	AY281093.1	AAP20940.1
genomic	CH471092.1	EAW83282.1
		EAW83283.1
		EAW83284.1
genomic	HH961748.1	CBX51347.1
genomic	HI573928.1	CBX47453.1
genomic	HI573930.1	CBX47454.1
genomic	HI573932.1	CBX47455.1
genomic	M81600.1	AAB60701.1
mRNA	AK223050.1	BAD96770.1
mRNA	AK297125.1	BAG59630.1
mRNA	AK297979.1	BAG60289.1
mRNA	AK298896.1	BAG61007.1
mRNA	AK307533.1	None
mRNA	AK309513.1	None
mRNA	AK312368.1	BAG35286.1
mRNA	AK316246.1	BAH14617.1
mRNA	AV729122.1	None
mRNA	BC000906.2	None
mRNA	BC007659.2	AAH07659.1
mRNA	BC107739.1	AAI07740.1
mRNA	BE903613.1	None
mRNA	BM052991.1	None
mRNA	BM452267.1	None
mRNA	BM787983.1	None
mRNA	BM828301.1	None
mRNA	CD014005.1	None
mRNA	J03934.1	AAA59940.1
other-genetic	DQ892892.2	ABM83818.1
other-genetic	DQ896139.2	ABM87138.1