• Gene id: 1728

Gene Summary

• Gene Symbol: NQO1   Gene   UCSC   Ensembl
• Aliases: DHQU, DIA4, DTD, NMOR1, NMORI, QR1
• Gene name: NAD(P)H quinone dehydrogenase 1
• Alternate names: 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/,
• Gene location: 16q22.1 (6563798: 6320577)     Exons: 16     NC_000004.12
• Gene summary(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 electro
• OMIM: 125860

SNPs

rs1800566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.69711242G>A
NC_000016.9   g.69745145G>A
NG_011504.2   g.20389C>T
NG_011504.1   g.20389C>T
NM_000903.3   c.559C>T
NM_000903.2   c.559C>T
NM_001025433.2   c.457C>T
NM_001025433.1   c.457C>T
NM_001025434.2   c.445C>T
NM_001025434.1   c.445C>T
NM_001286137.  

Protein Summary

• Protein general information: P15559  
  • Name: NAD(P)H dehydrogenase [quinone] 1 (EC 1.6.5.2) (Azoreductase) (DT diaphorase) (DTD) (Menadione reductase) (NAD(P)H:quinone oxidoreductase 1) (Phylloquinone reductase) (Quinone reductase 1) (QR1)
  • Length: 274  
  • Mass: 30868
• Sequence:

  MVGRRALIVLAHSERTSFNYAMKEAAAAALKKKGWEVVESDLYAMNFNPIISRKDITGKLKDPANFQYPAESVLA
  YKEGHLSPDIVAEQKKLEAADLVIFQFPLQWFGVPAILKGWFERVFIGEFAYTYAAMYDKGPFRSKKAVLSITTG
  GSGSMYSLQGIHGDMNVILWPIQSGILHFCGFQVLEPQLTYSIGHTPADARIQILEGWKKRLENIWDETPLYFAP
  SSLFDLNFQAGFLMKKEVQDEEKNKKFGLSVGHHLGKSIPTDNQIKARK

• Structural information:
  • Interpro: IPR003680  IPR029039  
  • PDB: 1D4A 1DXO 1GG5 1H66 1H69 1KBO 1KBQ 1QBG 2F1O 3JSX 4CET 4CF6 5A4K 5EA2 5EAI 5FUQ 6FY4
  • PDBsum: 1D4A 1DXO 1GG5 1H66 1H69 1KBO 1KBQ 1QBG 2F1O 3JSX 4CET 4CF6 5A4K 5EA2 5EAI 5FUQ 6FY4
  • DIP: 24210
  • STRING: ENSP00000319788
• Other Databases: GeneCards:  NQO1  Malacards:  NQO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0003955	NAD(P)H dehydrogenase (quinone) activity	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0003955	NAD(P)H dehydrogenase (quinone) activity	TAS	molecular function
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006809	nitric oxide biosynthetic process	TAS	biological process
GO:0007271	synaptic transmission, cholinergic	TAS	biological process
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0009636	response to toxic substance	TAS	biological process
GO:0003955	NAD(P)H dehydrogenase (quinone) activity	IEA	molecular function
GO:0006521	regulation of cellular amino acid metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0003955	NAD(P)H dehydrogenase (quinone) activity	IEA	molecular function
GO:1904880	response to hydrogen sulfide	IEA	biological process
GO:1901698	response to nitrogen compound	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0006801	superoxide metabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004784	superoxide dismutase activity	IEA	molecular function
GO:0003955	NAD(P)H dehydrogenase (quinone) activity	IEA	molecular function
GO:0006979	response to oxidative stress	IEA	biological process
GO:0071248	cellular response to metal ion	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0051602	response to electrical stimulus	IEA	biological process
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0006979	response to oxidative stress	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0019430	removal of superoxide radicals	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006979	response to oxidative stress	IEP	biological process
GO:0045454	cell redox homeostasis	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05200	Pathways in cancer
hsa05225	Hepatocellular carcinoma
hsa05418	Fluid shear stress and atherosclerosis
hsa00130	Ubiquinone and other terpenoid-quinone biosynthesis

Diseases

Associated diseases	References
Cancer (small cell)	PMID:11679176
leukemia	PMID:11222389
Breast cancer	PMID:23897704
Asthma	PMID:19027876
Chronic obstructive pulmonary disease	PMID:18556627
Chronic obstructive pulmonary disease	PMID:19705749
lung non-small cell carcinoma	PMID:19596483
lung non-small cell carcinoma	PMID:21479364
urinary system cancer	PMID:17619904
macular degeneration	PMID:23276910
Lung disease	PMID:19017358
chronic myeloid leukemia	PMID:16235982
acute myeloid leukemia	PMID:19456854
multiple myeloma	PMID:18156703
Pulmonary emphysema	PMID:18559366
acute lymphocytic leukemia	PMID:11774269
acute lymphocytic leukemia	PMID:18444911
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R