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 HSD17B1
Gene summary
Basic gene Info.Gene symbolHSD17B1
Gene namehydroxysteroid (17-beta) dehydrogenase 1
CytomapUCSC genome browser: 17q11-q21
Type of geneprotein-coding
Description17-beta-HSD 117-beta-hydroxysteroid dehydrogenase type 120 alpha-hydroxysteroid dehydrogenase20-alpha-HSDE2DHestradiol 17-beta-dehydrogenase 1estradiol 17-beta-dehydrogenase-1hydroxysteroid (17-beta) dehydrogenase 1 isoformplacental 17-beta-hydrox
Modification date20141207
dbXrefs MIM : 109684
HPRD : 00185
ProteinUniProt: P14061
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HSD17B1
BioGPS: 3292
PathwayNCI Pathway Interaction Database: HSD17B1
Pathway Commons: HSD17B1
ContextiHOP: HSD17B1
ligand binding site mutation search in PubMed: HSD17B1
UCL Cancer Institute: HSD17B1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for HSD17B1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for HSD17B1
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
(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 HSD17B1 from PDB

Differential gene expression and gene-gene network for HSD17B1
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 HSD17B1 and the right PPI network was created from samples without mutations in the LBS of HSD17B1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for HSD17B1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0014175Endometriosis8AlteredExpression, Biomarker, GeneticVariation
umls:C0000786Abortion, Spontaneous1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker

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

Pharmacological information for HSD17B1
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
Experimental|illicitDB015364-AndrostenedioneSmall molecule
Experimental|illicitDB01561AndrostanedioneSmall molecule
NutraceuticalDB01708DehydroepiandrosteroneSmall molecule
ApprovedDB02187EquilinSmall molecule
ExperimentalDB02323EM-1745Small molecule
IllicitDB02901DihydrotestosteroneSmall molecule
ExperimentalDB034612'-Monophosphoadenosine 5'-DiphosphoriboseSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HSD17B1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of HSD17B1
Multiple alignments for P14061 in multiple species
LBSAA sequence# speciesSpecies
A192GPVHTAFMEKV1Homo sapiens
A192GAVHTAFYEKL1Mus musculus
A192GAVHTAFHEKL1Rattus norvegicus
A92VLVCNAGRGLF2Mus musculus, Rattus norvegicus
A92VLVCNAGLGLL1Homo sapiens
C11VLITGCSSGIG3Homo sapiens, Mus musculus, Rattus norvegicus
C186VSLIECGAVHT2Mus musculus, Rattus norvegicus
C186LSLIECGPVHT1Homo sapiens
D66ETLQLDVRDSK1Homo sapiens
D66EILELDVRDSK1Mus musculus
D66EILELDVRDSE1Rattus norvegicus
E195HTAFMEKVLGS1Homo sapiens
E195HTAFYEKLVGG1Mus musculus
E195HTAFHEKLEGG1Rattus norvegicus
E239PEEVTELFLTA2Mus musculus, Rattus norvegicus
E239PEEVAEVFLTA1Homo sapiens
E283TAMHREVFGDV1Homo sapiens
E283AAMHQEAFSNL1Mus musculus
E283EAMHREAFSDL1Rattus norvegicus
F193PVHTAFMEKVL1Homo sapiens
F193AVHTAFYEKLV1Mus musculus
F193AVHTAFHEKLE1Rattus norvegicus
F227GYEQALSE-AQ2Mus musculus, Rattus norvegicus
F227HSKQVFREAAQ1Homo sapiens
F260FSTNRFLPLAR2Mus musculus, Rattus norvegicus
F260FTTERFLPLLR1Homo sapiens
G10VVLITGCSSGI3Homo sapiens, Mus musculus, Rattus norvegicus
G14TGCSSGIGLHL2Homo sapiens, Rattus norvegicus
G14TGCSSGIGMHL1Mus musculus
G142RVLVTASVGGL2Mus musculus, Rattus norvegicus
G142RVLVTGSVGGL1Homo sapiens
G145VTASVGGLMGL2Mus musculus, Rattus norvegicus
G145VTGSVGGLMGL1Homo sapiens
G16CSSGIGLHLAV2Homo sapiens, Rattus norvegicus
G16CSSGIGMHLAV1Mus musculus
G187SLIECGAVHTA2Mus musculus, Rattus norvegicus
G187SLIECGPVHTA1Homo sapiens
G93LVCNAGRGLFG2Mus musculus, Rattus norvegicus
G93LVCNAGLGLLG1Homo sapiens
G95CNAGRGLFGPL2Mus musculus, Rattus norvegicus
G95CNAGLGLLGPL1Homo sapiens
H222YQYLAHSKQVF1Homo sapiens
H222AHYLRGYEQAL1Mus musculus
H222AHYQRGYEQAL1Rattus norvegicus
I15GCSSGIGLHLA2Homo sapiens, Rattus norvegicus
I15GCSSGIGMHLA1Mus musculus
K160VYCASKFALEG3Homo sapiens, Mus musculus, Rattus norvegicus
K196TAFMEKVLGSP1Homo sapiens
K196TAFYEKLVGGP1Mus musculus
K196TAFHEKLEGGP1Rattus norvegicus
L150GGLMGLPFHEV2Mus musculus, Rattus norvegicus
L150GGLMGLPFNDV1Homo sapiens
L37KVYATLRDLKT1Homo sapiens
L37KVYATLRDLKA1Mus musculus
L37KVYATLRDLKS1Rattus norvegicus
L65LEILELDVRDS2Mus musculus, Rattus norvegicus
L65LETLQLDVRDS1Homo sapiens
L94VCNAGRGLFGP2Mus musculus, Rattus norvegicus
L94VCNAGLGLLGP1Homo sapiens
L96NAGRGLFGPLE2Mus musculus, Rattus norvegicus
L96NAGLGLLGPLE1Homo sapiens
M148SVGGLMGLPFH2Mus musculus, Rattus norvegicus
M148SVGGLMGLPFN1Homo sapiens
M194VHTAFMEKVLG1Homo sapiens
M194VHTAFYEKLVG1Mus musculus
M194VHTAFHEKLEG1Rattus norvegicus
M280NYVTAMHREVF1Homo sapiens
M280SYVAAMHQEAF1Mus musculus
M280SYVEAMHREAF1Rattus norvegicus
N153MGLPFHEVYCA2Mus musculus, Rattus norvegicus
N153MGLPFNDVYCA1Homo sapiens
N91DVLVCNAGRGL2Mus musculus, Rattus norvegicus
N91DVLVCNAGLGL1Homo sapiens
P188LIECGAVHTAF2Mus musculus, Rattus norvegicus
P188LIECGPVHTAF1Homo sapiens
R259YFSTNRFLPLA2Mus musculus, Rattus norvegicus
R259YFTTERFLPLL1Homo sapiens
R38VYATLRDLKTQ1Homo sapiens
R38VYATLRDLKAQ1Mus musculus
R38VYATLRDLKSQ1Rattus norvegicus
R68LQLDVRDSKSV1Homo sapiens
R68LELDVRDSKSV1Mus musculus
R68LELDVRDSESV1Rattus norvegicus
S12LITGCSSGIGL2Homo sapiens, Rattus norvegicus
S12LITGCSSGIGM1Mus musculus
S13ITGCSSGIGLH2Homo sapiens, Rattus norvegicus
S13ITGCSSGIGMH1Mus musculus
S143VLVTASVGGLM2Mus musculus, Rattus norvegicus
S143VLVTGSVGGLM1Homo sapiens
S223QYLAHSKQVFR1Homo sapiens
S223HYLRGYEQALS1Mus musculus
S223HYQRGYEQALS1Rattus norvegicus
T141GRVLVTASVGG2Mus musculus, Rattus norvegicus
T141GRVLVTGSVGG1Homo sapiens
T191CGPVHTAFMEK1Homo sapiens
T191CGAVHTAFYEK1Mus musculus
T191CGAVHTAFHEK1Rattus norvegicus
T36FKVYATLRDLK3Homo sapiens, Mus musculus, Rattus norvegicus
V114GAVLDVNVLGT2Mus musculus, Rattus norvegicus
V114ASVLDVNVVGT1Homo sapiens
V144LVTASVGGLMG2Mus musculus, Rattus norvegicus
V144LVTGSVGGLMG1Homo sapiens
V189IECGPVHTAFM1Homo sapiens
V189IECGAVHTAFY1Mus musculus
V189IECGAVHTAFH1Rattus norvegicus
V197AFMEKVLGSPE1Homo sapiens
V197AFYEKLVGGPG1Mus musculus
V197AFHEKLEGGPG1Rattus norvegicus
V226RGYEQALSE-A2Mus musculus, Rattus norvegicus
V226AHSKQVFREAA1Homo sapiens
V284AMHREVFGDVP1Homo sapiens
V284AMHQEAFSNL-1Mus musculus
V284AMHREAFSDL-1Rattus norvegicus
V67TLQLDVRDSKS1Homo sapiens
V67ILELDVRDSKS1Mus musculus
V67ILELDVRDSES1Rattus norvegicus
Y156PFHEVYCASKF2Mus musculus, Rattus norvegicus
Y156PFNDVYCASKF1Homo sapiens
Y219HRFYQYLAHSK1Homo sapiens
Y219HLFAHYLRGYE1Mus musculus
Y219HLFAHYQRGYE1Rattus norvegicus

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