mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NQO1
Gene summary
Basic gene Info.Gene symbolNQO1
Gene nameNAD(P)H dehydrogenase, quinone 1
SynonymsDHQU|DIA4|DTD|NMOR1|NMORI|QR1
CytomapUCSC genome browser: 16q22.1
Type of geneprotein-coding
RefGenesNM_000903.2,
NM_001025433.1,NM_001025434.1,NM_001286137.1,
DescriptionDT-diaphoraseNAD(P)H dehydrogenase [quinone] 1NAD(P)H:Quinone acceptor oxidoreductase type 1NAD(P)H:menadione oxidoreductase 1NAD(P)H:quinone oxidoreductase 1NAD(P)H:quinone oxireductaseazoreductasediaphorase (NADH/NADPH) (cytochrome b-5 reductase)
Modification date20141222
dbXrefs MIM : 125860
HGNC : HGNC
Ensembl : ENSG00000181019
HPRD : 00518
Vega : OTTHUMG00000137575
ProteinUniProt: P15559
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NQO1
BioGPS: 1728
PathwayNCI Pathway Interaction Database: NQO1
KEGG: NQO1
REACTOME: NQO1
Pathway Commons: NQO1
ContextiHOP: NQO1
ligand binding site mutation search in PubMed: NQO1
UCL Cancer Institute: NQO1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for NQO1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
H162G163WLUAD1
A21K23NSKCM1
Y156Y156HSTAD1
F179,G175L177VSTAD1
M155M155IUCEC1
R201R201QUCEC1
M132A131VUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for NQO1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
R201R201Q-1.5087075
G175L177V-1.0197914
F179L177V-1.0197914
M132A131V-0.97471264
Y156Y156H-0.69281858
H162G163W-0.36497249
M155M155I-0.14559768
A21K23N-0.013208251
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for NQO1 from PDB

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Differential gene expression and gene-gene network for NQO1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of NQO1 and the right PPI network was created from samples without mutations in the LBS of NQO1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for NQO1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1961102Precursor Cell Lymphoblastic Leukemia-Lymphoma22AlteredExpression, Biomarker, GeneticVariation
umls:C0007131Carcinoma, Non-Small-Cell Lung12Biomarker, GeneticVariation
umls:C0004096Asthma8Biomarker, GeneticVariation
umls:C1458155Breast Neoplasms8Biomarker, GeneticVariation
umls:C0030567Parkinson Disease7Biomarker, GeneticVariation
umls:C0027651Neoplasms7Biomarker, GeneticVariation
umls:C0009404Colorectal Neoplasms6Biomarker, GeneticVariation
umls:C0005695Urinary Bladder Neoplasms6Biomarker, GeneticVariation
umls:C0028797Occupational Diseases6Biomarker, GeneticVariation
umls:C0023470Leukemia, Myeloid5Biomarker, GeneticVariation
umls:C0026764Multiple Myeloma5Biomarker, GeneticVariation
umls:C0033578Prostatic Neoplasms3Biomarker, GeneticVariation
umls:C0023895Liver Diseases2Biomarker
umls:C0027659Neoplasms, Experimental2Biomarker, Therapeutic
umls:C0008370Cholestasis1Biomarker
umls:C0011853Diabetes Mellitus, Experimental1Therapeutic
umls:C0019061Hemolytic-Uremic Syndrome1Biomarker
umls:C0020456Hyperglycemia1Therapeutic
umls:C0022658Kidney Diseases1Therapeutic
umls:C0235032Neurotoxicity Syndromes1Therapeutic
umls:C0028754Obesity1Biomarker
umls:C0030354Papilloma1Biomarker
umls:C1846707Spinocerebellar Ataxia 171Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for NQO1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00170MenadioneSmall molecule
ApprovedDB00266DicoumarolSmall molecule
ExperimentalDB01927DuroquinoneSmall molecule
ExperimentalDB023953-Hydroxymethyl-5-Aziridinyl-1methyl-2-[1h-Indole-4,7-Dione]-PropanolSmall molecule
ExperimentalDB024005-Methoxy-1,2-Dimethyl-3-(4-Nitrophenoxymethyl)Indole-4,7-DioneSmall molecule
ExperimentalDB02633Cibacron BlueSmall molecule
ApprovedDB03147Flavin adenine dinucleotideSmall molecule
ExperimentalDB036265-Methoxy-1,2-Dimethyl-3-(Phenoxymethyl)Indole-4,7-DioneSmall molecule
ExperimentalDB040902,5-Diaziridin-1-Yl-3-(Hydroxymethyl)-6-Methylcyclohexa-2,5-Diene-1,4-DioneSmall molecule
ExperimentalDB04392Bishydroxy[2h-1-Benzopyran-2-One,1,2-Benzopyrone]Small molecule
ExperimentalDB073853-(HYDROXYMETHYL)-1-METHYL-5-(2-METHYLAZIRIDIN-1-YL)-2-PHENYL-1H-INDOLE-4,7-DIONESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NQO1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FADFAD4cetAA21 Y156 R201
FADFAD4cf6AA21 Y156 R201
FADFAD4cf6BA21 Y156 R201
CBDCIBACRON BLUE4cf6AF179
CBDCIBACRON BLUE4cf6BF179
CBDCIBACRON BLUE4cf6AM155
CBDCIBACRON BLUE4cf6BM155 H162
DTCDICOUMAROL4cetAM155 Y156 H162


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Conservation information for LBS of NQO1
Multiple alignments for P15559 in multiple species
LBSAA sequence# speciesSpecies
A21TSFNYAMKEAA3Homo sapiens, Mus musculus, Rattus norvegicus
E118LKGWFERVLVA2Mus musculus, Rattus norvegicus
E118LKGWFERVFIG1Homo sapiens
F107FPLQWFGVPAI2Homo sapiens, Mus musculus
F107FPLYWFGVPAI1Rattus norvegicus
F179SGILRFCGFQV2Mus musculus, Rattus norvegicus
F179SGILHFCGFQV1Homo sapiens
F18SERTSFNYAMK1Homo sapiens
F18SEKTSFNYAMK1Mus musculus
F18AERTSFNYAMK1Rattus norvegicus
F233LFDLNFQAGFL3Homo sapiens, Mus musculus, Rattus norvegicus
F237NFQAGFLMKKE2Homo sapiens, Mus musculus
F237NFQAGFLLKKE1Rattus norvegicus
G123ERVLVAGFAYT2Mus musculus, Rattus norvegicus
G123ERVFIGEFAYT1Homo sapiens
G150LSITTGGSGSM3Homo sapiens, Mus musculus, Rattus norvegicus
G151SITTGGSGSMY3Homo sapiens, Mus musculus, Rattus norvegicus
G175WPIQSGILRFC2Mus musculus, Rattus norvegicus
G175WPIQSGILHFC1Homo sapiens
G194LVYSIGHTPPD2Mus musculus, Rattus norvegicus
G194LTYSIGHTPAD1Homo sapiens
G236LNFQAGFLMKK2Homo sapiens, Mus musculus
G236LNFQAGFLLKK1Rattus norvegicus
H12LIVLAHSERTS1Homo sapiens
H12LIVLAHSEKTS1Mus musculus
H12LIVLAHAERTS1Rattus norvegicus
H162SLQGVHGDMNV2Mus musculus, Rattus norvegicus
H162SLQGIHGDMNV1Homo sapiens
H195VYSIGHTPPDA2Mus musculus, Rattus norvegicus
H195TYSIGHTPADA1Homo sapiens
I161YSLQGVHGDMN2Mus musculus, Rattus norvegicus
I161YSLQGIHGDMN1Homo sapiens
I193QLVYSIGHTPP2Mus musculus, Rattus norvegicus
I193QLTYSIGHTPA1Homo sapiens
I51NFNPIISRKDI1Homo sapiens
I51NFNPIISRNDI1Mus musculus
I51NFNPLISRNDI1Rattus norvegicus
L104IFQFPLQWFGV2Homo sapiens, Mus musculus
L104IFQFPLYWFGV1Rattus norvegicus
L205ARIQILEGWKK1Homo sapiens
L205ARMQILEGWKK1Mus musculus
L205ARVQVLEGWKK1Rattus norvegicus
M132YTYAAMYDKGP1Homo sapiens
M132YTYAAMYDNGP1Mus musculus
M132YTYATMYDKGP1Rattus norvegicus
M155GGSGSMYSLQG3Homo sapiens, Mus musculus, Rattus norvegicus
N19ERTSFNYAMKE2Homo sapiens, Rattus norvegicus
N19EKTSFNYAMKE1Mus musculus
P103VIFQFPLQWFG2Homo sapiens, Mus musculus
P103VIFQFPLYWFG1Rattus norvegicus
P69ANFQYPAESVL1Homo sapiens
P69KNFQYPSESSL1Mus musculus
P69ENFQYPVESSL1Rattus norvegicus
Q105FQFPLQWFGVP2Homo sapiens, Mus musculus
Q105FQFPLYWFGVP1Rattus norvegicus
Q67DPANFQYPAES1Homo sapiens
Q67DSKNFQYPSES1Mus musculus
Q67DSENFQYPVES1Rattus norvegicus
R201TPADARIQILE1Homo sapiens
R201TPPDARMQILE1Mus musculus
R201TPPDARVQVLE1Rattus norvegicus
S152ITTGGSGSMYS3Homo sapiens, Mus musculus, Rattus norvegicus
S154TGGSGSMYSLQ3Homo sapiens, Mus musculus, Rattus norvegicus
S17HSERTSFNYAM1Homo sapiens
S17HSEKTSFNYAM1Mus musculus
S17HAERTSFNYAM1Rattus norvegicus
S192PQLVYSIGHTP2Mus musculus, Rattus norvegicus
S192PQLTYSIGHTP1Homo sapiens
T148TLLSITTGGSG2Mus musculus, Rattus norvegicus
T148AVLSITTGGSG1Homo sapiens
T149LLSITTGGSGS2Mus musculus, Rattus norvegicus
T149VLSITTGGSGS1Homo sapiens
T16AHSERTSFNYA1Homo sapiens
T16AHSEKTSFNYA1Mus musculus
T16AHAERTSFNYA1Rattus norvegicus
W106QFPLQWFGVPA2Homo sapiens, Mus musculus
W106QFPLYWFGVPA1Rattus norvegicus
Y127IGEFAYTYAAM1Homo sapiens
Y127VAGFAYTYAAM1Mus musculus
Y127VAGFAYTYATM1Rattus norvegicus
Y129EFAYTYAAMYD1Homo sapiens
Y129GFAYTYAAMYD1Mus musculus
Y129GFAYTYATMYD1Rattus norvegicus
Y156GSGSMYSLQGV2Mus musculus, Rattus norvegicus
Y156GSGSMYSLQGI1Homo sapiens
Y68PANFQYPAESV1Homo sapiens
Y68SKNFQYPSESS1Mus musculus
Y68SENFQYPVESS1Rattus norvegicus


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