Gene Gene information from NCBI Gene database.
Entrez ID 1728
Gene name NAD(P)H quinone dehydrogenase 1
Gene symbol NQO1
Synonyms (NCBI Gene)
DHQUDIA4DTDNMOR1NMORIQR1
Chromosome 16
Chromosome location 16q22.1
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 electro
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1800566 G>A Drug-response, risk-factor, not-provided, pathogenic Missense variant, coding sequence variant
rs1555537451 G>A Likely-pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
498
miRTarBase ID miRNA Experiments Reference
MIRT1191823 hsa-let-7a CLIP-seq
MIRT1191824 hsa-let-7b CLIP-seq
MIRT1191825 hsa-let-7c CLIP-seq
MIRT1191826 hsa-let-7d CLIP-seq
MIRT1191827 hsa-let-7e CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
13
Transcription factor Regulation Reference
ESR1 Repression 20623181
FOS Unknown 8004128
JUN Unknown 11035254;8004128
JUNB Unknown 11035254
JUND Unknown 11035254
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0003723 Function RNA binding HDA 22658674
GO:0003955 Function NAD(P)H dehydrogenase (quinone) activity IBA
GO:0003955 Function NAD(P)H dehydrogenase (quinone) activity IEA
GO:0003955 Function NAD(P)H dehydrogenase (quinone) activity TAS 10393963
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
125860 2874 ENSG00000181019
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15559
Protein 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)
Protein function 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 fl
PDB 1D4A , 1DXO , 1GG5 , 1H66 , 1H69 , 1KBO , 1KBQ , 1QBG , 2F1O , 3JSX , 4CET , 4CF6 , 5A4K , 5EA2 , 5EAI , 5FUQ , 6FY4 , 6LLC , 8C9J , 8OK0 , 8PQN , 8RFM , 8RFN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02525 Flavodoxin_2 4 212 Flavodoxin-like fold Domain
Sequence
Sequence length 274
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Biosynthesis of cofactors
Pathways in cancer
Chemical carcinogenesis - reactive oxygen species
Hepatocellular carcinoma
Fluid shear stress and atherosclerosis
  Regulation of ornithine decarboxylase (ODC)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
5
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Benzene toxicity, susceptibility to Uncertain significance rs1800566 RCV000018300
NQO1-related disorder Likely benign; Uncertain significance; Benign rs762495795, rs1800566, rs534337407, rs689453 RCV003916465
RCV003974839
RCV003934538
RCV003976284
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute erythroleukemia Associate 17339179
Acute Lung Injury Associate 19017358, 36555290
Adenocarcinoma Associate 25880877, 26625776, 26683690, 7669561
Adenoma Associate 23840148
Adenoma Pleomorphic Associate 25928388
Agranulocytosis Associate 40311769
Alzheimer Disease Associate 21220432
Anophthalmia with pulmonary hypoplasia Associate 32633891
Asthma Associate 16385446, 20049212, 20526719, 23066387, 31539146
Atrial Fibrillation Associate 29776386