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 AKR1B1
Gene summary
Basic gene Info.Gene symbolAKR1B1
Gene namealdo-keto reductase family 1, member B1 (aldose reductase)
SynonymsADR|ALDR1|ALR2|AR
CytomapUCSC genome browser: 7q35
Type of geneprotein-coding
RefGenesNM_001628.2,
DescriptionLii5-2 CTCL tumor antigenaldehyde reductase 1aldo-keto reductase family 1 member B1aldose reductaselow Km aldose reductase
Modification date20141207
dbXrefs MIM : 103880
HGNC : HGNC
Ensembl : ENSG00000085662
HPRD : 00071
Vega : OTTHUMG00000155322
ProteinUniProt: P15121
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AKR1B1
BioGPS: 231
PathwayNCI Pathway Interaction Database: AKR1B1
KEGG: AKR1B1
REACTOME: AKR1B1
Pathway Commons: AKR1B1
ContextiHOP: AKR1B1
ligand binding site mutation search in PubMed: AKR1B1
UCL Cancer Institute: AKR1B1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_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 AKR1B1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R269R269HCOAD2
E272E272DCOAD1
Y310D309ECOAD1
V48V48MLUAD1
K12P14RLUAD1
V298R297GLUSC1
W112,T114P113LOV1
P219P219LSKCM1
R269R269HSTAD1
R41Y40HSTAD1
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 AKR1B1
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
R269R269H-1.5955127
V298R297G-1.428264
R41Y40H-1.1389167
E272E272D-0.94934351
V48V48M-0.87705496
Y310D309E-0.79454109
P219P219L-0.58644833
T114P113L-0.39466044
W112P113L-0.39466044
K12P14R-0.36984147
(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 AKR1B1 from PDB
PDB IDPDB titlePDB structure
1ABNTHE CRYSTAL STRUCTURE OF THE ALDOSE REDUCTASE NADPH BINARY COMPLEX

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Differential gene expression and gene-gene network for AKR1B1
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 AKR1B1 and the right PPI network was created from samples without mutations in the LBS of AKR1B1. 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 AKR1B1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0086543Cataract8Biomarker, Therapeutic
umls:C0014170Endometrial Neoplasms1Biomarker

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

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Pharmacological information for AKR1B1
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
NutraceuticalDB00157NADHSmall molecule
ApprovedDB00605SulindacSmall molecule
ExperimentalDB01689Inhibitor Idd 384Small molecule
ExperimentalDB02007Alpha-D-Glucose-6-PhosphateSmall molecule
ExperimentalDB02020AlrestatinSmall molecule
ExperimentalDB02021FidarestatSmall molecule
ExperimentalDB02101(S,R)-fidarestatSmall molecule
ExperimentalDB02132[3-(4-Bromo-2-Fluoro-Benzyl)-7-Chloro-2,4-Dioxo-3,4-Dihydro-2h-Quinazolin-1-Yl]-Acetic AcidSmall molecule
WithdrawnDB02383TolrestatSmall molecule
ExperimentalDB02518N-AcetylalanineSmall molecule
ExperimentalDB02712SorbinilSmall molecule
ExperimentalDB02834IDD552Small molecule
ExperimentalDB02994Hydroxydimethylarsine OxideSmall molecule
ExperimentalDB034612'-Monophosphoadenosine 5'-DiphosphoriboseSmall molecule
Nutraceutical|vet_approvedDB04272Citric AcidSmall molecule
InvestigationalDB05327AS-3201Small molecule
InvestigationalDB05383pimagedine HClSmall molecule
ExperimentalDB07028(2-{[(4-BROMO-2-FLUOROBENZYL)AMINO]CARBONYL}-5-CHLOROPHENOXY)ACETIC ACIDSmall molecule
ExperimentalDB07030(5-CHLORO-2-{[(3-NITROBENZYL)AMINO]CARBONYL}PHENOXY)ACETIC ACIDSmall molecule
ExperimentalDB07063{3-[(4,5,7-TRIFLUORO-1,3-BENZOTHIAZOL-2-YL)METHYL]-1H-INDOL-1-YL}ACETIC ACIDSmall molecule
ExperimentalDB07093{3-[(5-CHLORO-1,3-BENZOTHIAZOL-2-YL)METHYL]-2,4-DIOXO-3,4-DIHYDROPYRIMIDIN-1(2H)-YL}ACETIC ACIDSmall molecule
ExperimentalDB071393-[5-(3-nitrophenyl)thiophen-2-yl]propanoic acidSmall molecule
ExperimentalDB071876-[(5-CHLORO-3-METHYL-1-BENZOFURAN-2-YL)SULFONYL]PYRIDAZIN-3(2H)-ONESmall molecule
ExperimentalDB074502[4-BROMO-2-FLUOROPHENYL)METHYL]-6-FLUOROSPIRO[ISOQUINOLINE-4-(1H),3'-PYRROLIDINE]-1,2',3,5'(2H)-TETRONESmall molecule
ExperimentalDB074984-[3-(3-NITROPHENYL)-1,2,4-OXADIAZOL-5-YL]BUTANOIC ACIDSmall molecule
ExperimentalDB07999{4-[(CARBOXYMETHOXY)CARBONYL]-3,3-DIOXIDO-1-OXONAPHTHO[1,2-D]ISOTHIAZOL-2(1H)-YL}ACETIC ACIDSmall molecule
ExperimentalDB080002-(CARBOXYMETHYL)-1-OXO-1,2-DIHYDRONAPHTHO[1,2-D]ISOTHIAZOLE-4-CARBOXYLIC ACID 3,3-DIOXIDESmall molecule
ExperimentalDB08084IDD594Small molecule
ExperimentalDB08098[5-(5-nitro-2-furyl)-1,3,4-oxadiazol-2-yl]thio}acetic acidSmall molecule
ExperimentalDB084492-(3-((4,5,7-trifluorobenzo[d]thiazol-2-yl)methyl)-1H-pyrrolo[2,3-b]pyridin-1-yl)acetic acidSmall molecule
ExperimentalDB087723,4-DIHYDRO-4-OXO-3-((5-TRIFLUOROMETHYL-2-BENZOTHIAZOLYL)METHYL)-1-PHTHALAZINE ACETIC ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of AKR1B1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
LDT[2-(4-BROMO-2-FLUORO-BENZYLTHIOCARBAMOYL)-5-FLUORO-PHENOXY]-ACETIC ACID2i16AV48 W112 T114
LDT[2-(4-BROMO-2-FLUORO-BENZYLTHIOCARBAMOYL)-5-FLUORO-PHENOXY]-ACETIC ACID2i17AV48 W112 T114
LDT[2-(4-BROMO-2-FLUORO-BENZYLTHIOCARBAMOYL)-5-FLUORO-PHENOXY]-ACETIC ACID3lqlAV48 W112 Y310
BRBROMIDE3lqlAW112
NDPNADPH2i16AW112 R269 E272
NDPNADPH2i17AW112 R269 E272
NAPNADP ZWITTERION3lqlAW112 R269 E272


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Conservation information for LBS of AKR1B1
Multiple alignments for P15121 in multiple species
LBSAA sequence# speciesSpecies
A246YNKTTAQVLIR2Mus musculus, Rattus norvegicus
A246HNKTTAQVLIR1Homo sapiens
A300NWRVCALMSCA2Mus musculus, Rattus norvegicus
A300NWRVCALLSCT1Homo sapiens
A46RHIDCAQVYQN2Mus musculus, Rattus norvegicus
A46RHIDCAHVYQN1Homo sapiens
C299RNWRVCALMSC2Mus musculus, Rattus norvegicus
C299RNWRVCALLSC1Homo sapiens
C304CALMSCAKHKD2Mus musculus, Rattus norvegicus
C304CALLSCTSHKD1Homo sapiens
C81VSKLWCTYHEK1Homo sapiens
C81VSKLWCTFHDK1Mus musculus
C81VSKLWCTFHDQ1Rattus norvegicus
D217PLGSPDRPWAK3Homo sapiens, Mus musculus, Rattus norvegicus
D44GYRHIDCAQVY2Mus musculus, Rattus norvegicus
D44GYRHIDCAHVY1Homo sapiens
D99QKTLSDLQLDY2Mus musculus, Rattus norvegicus
D99QKTLSDLKLDY1Homo sapiens
E272PERIAENFKVF1Homo sapiens
E272PVRIAENLKVF1Mus musculus
E272PARIAENFKVF1Rattus norvegicus
E52QVYQNEKEVGV2Mus musculus, Rattus norvegicus
E52HVYQNENEVGV1Homo sapiens
E54YQNEKEVGVAL2Mus musculus, Rattus norvegicus
E54YQNENEVGVAI1Homo sapiens
E71QVVKRQDLFIV2Mus musculus, Rattus norvegicus
E71QVVKREELFIV1Homo sapiens
E72VVKRQDLFIVS2Mus musculus, Rattus norvegicus
E72VVKREELFIVS1Homo sapiens
F116HWPTGFKPGPD2Mus musculus, Rattus norvegicus
F116HWPTGFKPGKE1Homo sapiens
F122KPGPDYFPLDA2Mus musculus, Rattus norvegicus
F122KPGKEFFPLDE1Homo sapiens
F123PGPDYFPLDAS2Mus musculus, Rattus norvegicus
F123PGKEFFPLDES1Homo sapiens
G19PTLGLGTWKSP2Mus musculus, Rattus norvegicus
G19PILGLGTWKSP1Homo sapiens
G214AYSPLGSPDRP3Homo sapiens, Mus musculus, Rattus norvegicus
H111DLYLIHWPTGF3Homo sapiens, Mus musculus, Rattus norvegicus
H47HIDCAQVYQNE2Mus musculus, Rattus norvegicus
H47HIDCAHVYQNE1Homo sapiens
I261RNLVVIPKSVT3Homo sapiens, Mus musculus, Rattus norvegicus
K12LNNGTKMPTLG2Mus musculus, Rattus norvegicus
K12LNNGAKMPILG1Homo sapiens
K22GLGTWKSPPGQ3Homo sapiens, Mus musculus, Rattus norvegicus
K263LVVIPKSVTPE1Homo sapiens
K263LVVIPKSVTPV1Mus musculus
K263LVVIPKSVTPA1Rattus norvegicus
K69KEQVVKRQDLF2Mus musculus, Rattus norvegicus
K69REQVVKREELF1Homo sapiens
K78LFIVSKLWCTF2Mus musculus, Rattus norvegicus
K78LFIVSKLWCTY1Homo sapiens
K95KGACQKTLSDL2Homo sapiens, Rattus norvegicus
K95KGAFQKTLSDL1Mus musculus
L125PDYFPLDASGN2Mus musculus, Rattus norvegicus
L125KEFFPLDESGN1Homo sapiens
L213TAYSPLGSPDR3Homo sapiens, Mus musculus, Rattus norvegicus
L229EDPSLLEDPRI3Homo sapiens, Mus musculus, Rattus norvegicus
L301WRVCALMSCAK2Mus musculus, Rattus norvegicus
L301WRVCALLSCTS1Homo sapiens
L302RVCALMSCAKH2Mus musculus, Rattus norvegicus
L302RVCALLSCTSH1Homo sapiens
N161AIGISNFNHLQ1Homo sapiens
N161TIGVSNFNPLQ1Mus musculus
N161AIGVSNFNPLQ1Rattus norvegicus
N273ERIAENFKVFD1Homo sapiens
N273VRIAENLKVFD1Mus musculus
N273ARIAENFKVFD1Rattus norvegicus
N51AQVYQNEKEVG2Mus musculus, Rattus norvegicus
N51AHVYQNENEVG1Homo sapiens
N53VYQNEKEVGVA2Mus musculus, Rattus norvegicus
N53VYQNENEVGVA1Homo sapiens
P212VTAYSPLGSPD3Homo sapiens, Mus musculus, Rattus norvegicus
P216SPLGSPDRPWA3Homo sapiens, Mus musculus, Rattus norvegicus
P219GSPDRPWAKPE3Homo sapiens, Mus musculus, Rattus norvegicus
P24GTWKSPPGQVT3Homo sapiens, Mus musculus, Rattus norvegicus
P262NLVVIPKSVTP3Homo sapiens, Mus musculus, Rattus norvegicus
P311KHKDYPFHAEV2Mus musculus, Rattus norvegicus
P311SHKDYPFHEEF1Homo sapiens
Q184KPAVNQIECHP3Homo sapiens, Mus musculus, Rattus norvegicus
Q50CAQVYQNEKEV2Mus musculus, Rattus norvegicus
Q50CAHVYQNENEV1Homo sapiens
R218LGSPDRPWAKP3Homo sapiens, Mus musculus, Rattus norvegicus
R269SVTPERIAENF1Homo sapiens
R269SVTPVRIAENL1Mus musculus
R269SVTPARIAENF1Rattus norvegicus
R41IDVGYRHIDCA1Homo sapiens
R41IDLGYRHIDCA1Mus musculus
R41IDMGYRHIDCA1Rattus norvegicus
S160KAIGISNFNHL1Homo sapiens
S160KTIGVSNFNPL1Mus musculus
S160KAIGVSNFNPL1Rattus norvegicus
S211VVTAYSPLGSP3Homo sapiens, Mus musculus, Rattus norvegicus
S215YSPLGSPDRPW3Homo sapiens, Mus musculus, Rattus norvegicus
S23LGTWKSPPGQV3Homo sapiens, Mus musculus, Rattus norvegicus
S264VVIPKSVTPER1Homo sapiens
S264VVIPKSVTPVR1Mus musculus
S264VVIPKSVTPAR1Rattus norvegicus
S303VCALMSCAKHK2Mus musculus, Rattus norvegicus
S303VCALLSCTSHK1Homo sapiens
T114LIHWPTGFKPG3Homo sapiens, Mus musculus, Rattus norvegicus
T20TLGLGTWKSPP2Mus musculus, Rattus norvegicus
T20ILGLGTWKSPP1Homo sapiens
T266IPKSVTPERIA1Homo sapiens
T266IPKSVTPVRIA1Mus musculus
T266IPKSVTPARIA1Rattus norvegicus
T305ALMSCAKHKDY2Mus musculus, Rattus norvegicus
T305ALLSCTSHKDY1Homo sapiens
V131DASGNVIPSDT2Mus musculus, Rattus norvegicus
V131DESGNVVPSDT1Homo sapiens
V265VIPKSVTPERI1Homo sapiens
V265VIPKSVTPVRI1Mus musculus
V265VIPKSVTPARI1Rattus norvegicus
V298NRNWRVCALMS2Mus musculus, Rattus norvegicus
V298NRNWRVCALLS1Homo sapiens
V48IDCAQVYQNEK2Mus musculus, Rattus norvegicus
V48IDCAHVYQNEN1Homo sapiens
W112LYLIHWPTGFK3Homo sapiens, Mus musculus, Rattus norvegicus
W21LGLGTWKSPPG3Homo sapiens, Mus musculus, Rattus norvegicus
W220SPDRPWAKPED3Homo sapiens, Mus musculus, Rattus norvegicus
W80IVSKLWCTFHD2Mus musculus, Rattus norvegicus
W80IVSKLWCTYHE1Homo sapiens
Y210IVVTAYSPLGS3Homo sapiens, Mus musculus, Rattus norvegicus
Y310AKHKDYPFHAE2Mus musculus, Rattus norvegicus
Y310TSHKDYPFHEE1Homo sapiens
Y49DCAQVYQNEKE2Mus musculus, Rattus norvegicus
Y49DCAHVYQNENE1Homo sapiens


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