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 AKR1D1
Gene summary
Basic gene Info.Gene symbolAKR1D1
Gene namealdo-keto reductase family 1, member D1
Synonyms3o5bred|CBAS2|SRD5B1
CytomapUCSC genome browser: 7q32-q33
Type of geneprotein-coding
RefGenesNM_001190906.1,
NM_001190907.1,NM_005989.3,
Description3-oxo-5-beta-steroid 4-dehydrogenasedelta 4-3-ketosteroid-5-beta-reductasedelta(4)-3-ketosteroid 5-beta-reductasedelta(4)-3-oxosteroid 5-beta-reductasesteroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1)
Modification date20141211
dbXrefs MIM : 604741
HGNC : HGNC
Ensembl : ENSG00000122787
HPRD : 07263
Vega : OTTHUMG00000155787
ProteinUniProt: P51857
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AKR1D1
BioGPS: 6718
PathwayNCI Pathway Interaction Database: AKR1D1
KEGG: AKR1D1
REACTOME: AKR1D1
Pathway Commons: AKR1D1
ContextiHOP: AKR1D1
ligand binding site mutation search in PubMed: AKR1D1
UCL Cancer Institute: AKR1D1
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
GO:0006699bile acid biosynthetic process7508385
GO:0006707cholesterol catabolic process7508385
GO:0007586digestion7508385
GO:0008207C21-steroid hormone metabolic process7508385
GO:0008209androgen metabolic process7508385
GO:0055114oxidation-reduction process7508385


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Ligand binding site mutations for AKR1D1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
A256A255ECOAD1
D53I52VHNSC1
Y132P133HLUAD1
L239L239VLUAD1
V231V233DLUSC1
R279R279KSKCM1
K273K273RSKCM1
I131E130KSKCM1
K273K273NSKCM1
N283N283KUCEC1
S169V168MUCEC1
M313,L311L312FUCEC1
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 AKR1D1
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
R279R279K-1.5848302
L311L312F-1.379391
M313L312F-1.379391
K273K273N-1.2986496
N283N283K-1.2622247
D53I52V-1.2003417
L239L239V-1.0611238
S169V168M-1.0551524
K273K273R-0.98853512
Y132P133H-0.94236489
V231V233D-0.74476912
I131E130K-0.61440033
A256A255E-0.5035316
(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 AKR1D1 from PDB

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Differential gene expression and gene-gene network for AKR1D1
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 AKR1D1 and the right PPI network was created from samples without mutations in the LBS of AKR1D1. 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 AKR1D1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1856127Bile acid synthesis defect, congenital, 23Biomarker, GeneticVariation
umls:C0018995Hemochromatosis1Biomarker

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

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Pharmacological information for AKR1D1
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
ApprovedDB00548Azelaic AcidSmall molecule
ApprovedDB01216FinasterideSmall molecule
ExperimentalDB074475-beta-DIHYDROTESTOSTERONESmall molecule
ExperimentalDB07557(5BETA)-PREGNANE-3,20-DIONESmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of AKR1D1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NAPNADP ZWITTERION3burAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3burBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3buvAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3buvBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3bv7AD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3bv7BD53 S169 L239 A256 K273 R279 N283
NDPNADPH3caqAD53 S169 L239 A256 K273 R279 N283
NDPNADPH3caqBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3casAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3casBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3cavAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3cavBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3cmfAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3cmfBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3cotAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3cotBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3dopAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3dopBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3g1rAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3g1rBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3uzwAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3uzwBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3uzxAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3uzxBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3uzyAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3uzyBD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3uzzAD53 S169 L239 A256 K273 R279 N283
NAPNADP ZWITTERION3uzzBD53 S169 L239 A256 K273 R279 N283
EPEHEPES3buvAI131 Y132 L311
CI25BETA-PREGNANE-3,20-DIONE3cavBY132
STRPROGESTERONE3cotAY132
BDT5BETA-DIHYDROTESTOSTERONE3dopBY132
AOXEPIANDROSTERONE3uzxBY132
AOM5ALPHA-ANDROSTANE-3BETA,17BETA-DIOL3uzxAY132 L311
CI25BETA-PREGNANE-3,20-DIONE3cavAY132 L311 M313
PDNPREDNISONE3cmfAY132 L311 M313
PDNPREDNISONE3cmfBY132 L311 M313
BDT5BETA-DIHYDROTESTOSTERONE3uzyAY132 L311 M313
BDT5BETA-DIHYDROTESTOSTERONE3uzyBY132 L311 M313
ASDANDROST-4-ENE-3,17-DIONE3uzzBY132 L311 M313
FITFINASTERIDE3g1rBY132 M313
TESTESTOSTERONE3uzzAY132 M313
TESTESTOSTERONE3burAY132 V231
TESTESTOSTERONE3burBY132 V231
ASDANDROST-4-ENE-3,17-DIONE3casAY132 V231
ASDANDROST-4-ENE-3,17-DIONE3casBY132 V231


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Conservation information for LBS of AKR1D1
Multiple alignments for P51857 in multiple species
LBSAA sequence# speciesSpecies
A256YNKTQAQIVLR2Mus musculus, Rattus norvegicus
A256YNKTAAQIVLR1Homo sapiens
D53GYRHIDGAYVY2Mus musculus, Rattus norvegicus
D53GYRHIDGAYIY1Homo sapiens
E120DLYIIEVPMAF1Homo sapiens
E120DLYIIELPMAF1Mus musculus
E120DLYIIEMPMAF1Rattus norvegicus
E282PERIKENFQIF2Mus musculus, Rattus norvegicus
E282LERIKENFQIF1Homo sapiens
F275VIPKSFNLERI1Homo sapiens
F275VIPKSFTPERI1Mus musculus
F275VIPKSTTPERI1Rattus norvegicus
G223AYSPLGTSRNP1Homo sapiens
G223AHSPLGTCRNP1Mus musculus
G223AYSPLGTCRNP1Rattus norvegicus
G24PIIGLGTYSEP1Homo sapiens
G24PLIGLGTYSDP1Mus musculus
G24PIIGLGTYSDP1Rattus norvegicus
I131KPGDEIYPRDE1Homo sapiens
I131KPGKEIYPRDE1Mus musculus
I131KPGEEFYPKDE1Rattus norvegicus
I229TSRNPIWVNVS1Homo sapiens
I229TCRNPSWVNVS1Mus musculus
I229TCRNPLWVNVS1Rattus norvegicus
I271RGVVVIPKSFN1Homo sapiens
I271RGIVVIPKSFT1Mus musculus
I271RGLVVIPKSTT1Rattus norvegicus
I57IDGAYIYQNEH1Homo sapiens
I57IDGAYVYHNEH1Mus musculus
I57IDGAYVYRNEH1Rattus norvegicus
K273VVVIPKSFNLE1Homo sapiens
K273IVVIPKSFTPE1Mus musculus
K273LVVIPKSTTPE1Rattus norvegicus
K87IFYCGKLWATN1Homo sapiens
K87IFYCGKLWNTE1Mus musculus
K87IFYCGKLWSTD1Rattus norvegicus
L222TAYSPLGTSRN1Homo sapiens
L222VAHSPLGTCRN1Mus musculus
L222VAYSPLGTCRN1Rattus norvegicus
L239SSPPLLKDALL1Homo sapiens
L239SSPPLLNDELL1Mus musculus
L239SSPPLLKDELL1Rattus norvegicus
L311VRFVELLMWRD1Homo sapiens
L311VRYVELLMWSD1Mus musculus
L311VRFVEMLMWSD1Rattus norvegicus
M313FVELLMWRDHP1Homo sapiens
M313YVELLMWSDHP1Mus musculus
M313FVEMLMWSDHP1Rattus norvegicus
N170SLGVSNFNRRQ3Homo sapiens, Mus musculus, Rattus norvegicus
N227LGTSRNPIWVN1Homo sapiens
N227LGTCRNPSWVN1Mus musculus
N227LGTCRNPLWVN1Rattus norvegicus
N283ERIKENFQIFD3Homo sapiens, Mus musculus, Rattus norvegicus
P221ITAYSPLGTSR1Homo sapiens
P221IVAHSPLGTCR1Mus musculus
P221IVAYSPLGTCR1Rattus norvegicus
P272GVVVIPKSFNL1Homo sapiens
P272GIVVIPKSFTP1Mus musculus
P272GLVVIPKSTTP1Rattus norvegicus
Q193KPVTNQVECHP2Mus musculus, Rattus norvegicus
Q193KPVSNQVECHP1Homo sapiens
R226PLGTSRNPIWV1Homo sapiens
R226PLGTCRNPSWV1Mus musculus
R226PLGTCRNPLWV1Rattus norvegicus
R279SFNLERIKENF1Homo sapiens
R279SFTPERIKENF1Mus musculus
R279STTPERIKENF1Rattus norvegicus
S169KSLGVSNFNRR3Homo sapiens, Mus musculus, Rattus norvegicus
S220VITAYSPLGTS1Homo sapiens
S220VIVAHSPLGTC1Mus musculus
S220FIVAYSPLGTC1Rattus norvegicus
S225SPLGTSRNPIW1Homo sapiens
S225SPLGTCRNPSW1Mus musculus
S225SPLGTCRNPLW1Rattus norvegicus
S274VVIPKSFNLER1Homo sapiens
S274VVIPKSFTPER1Mus musculus
S274VVIPKSTTPER1Rattus norvegicus
T224YSPLGTSRNPI1Homo sapiens
T224HSPLGTCRNPS1Mus musculus
T224YSPLGTCRNPL1Rattus norvegicus
T25IIGLGTYSEPK1Homo sapiens
T25LIGLGTYSDPR1Mus musculus
T25IIGLGTYSDPR1Rattus norvegicus
V231RNPIWVNVSSP1Homo sapiens
V231RNPSWVNVSSP1Mus musculus
V231RNPLWVNVSSP1Rattus norvegicus
V309KNVRFVELLMW1Homo sapiens
V309KNVRYVELLMW1Mus musculus
V309KNVRFVEMLMW1Rattus norvegicus
W140DENGKWLYHKS1Homo sapiens
W140DENGRIIYDKT1Mus musculus
W140DENGRVIYHKS1Rattus norvegicus
W230SRNPIWVNVSS1Homo sapiens
W230CRNPSWVNVSS1Mus musculus
W230CRNPLWVNVSS1Rattus norvegicus
W314VELLMWRDHPE1Homo sapiens
W314VELLMWSDHPE1Mus musculus
W314VEMLMWSDHPE1Rattus norvegicus
W89YCGKLWATNHV1Homo sapiens
W89YCGKLWNTEHV1Mus musculus
W89YCGKLWSTDHD1Rattus norvegicus
Y132PGDEIYPRDEN1Homo sapiens
Y132PGKEIYPRDEN1Mus musculus
Y132PGEEFYPKDEN1Rattus norvegicus
Y219IVITAYSPLGT1Homo sapiens
Y219IVIVAHSPLGT1Mus musculus
Y219SFIVAYSPLGT1Rattus norvegicus
Y26IGLGTYSDPRP2Mus musculus, Rattus norvegicus
Y26IGLGTYSEPKS1Homo sapiens
Y58DGAYIYQNEHE1Homo sapiens
Y58DGAYVYHNEHE1Mus musculus
Y58DGAYVYRNEHE1Rattus norvegicus


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