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mutLBSgeneDB |
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| Gene summary for HSD17B1 |
 Gene summary |
| Basic gene Info. | Gene symbol | HSD17B1 |
| Gene name | hydroxysteroid (17-beta) dehydrogenase 1 | |
| Synonyms | EDH17B2|EDHB17|HSD17|SDR28C1 | |
| Cytomap | UCSC genome browser: 17q11-q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000413.2, | |
| Description | 17-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 date | 20141207 | |
| dbXrefs | MIM : 109684 | |
| HGNC : HGNC | ||
| HPRD : 00185 | ||
| Protein | UniProt: P14061 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HSD17B1 | |
| BioGPS: 3292 | ||
| Pathway | NCI Pathway Interaction Database: HSD17B1 | |
| KEGG: HSD17B1 | ||
| REACTOME: HSD17B1 | ||
| Pathway Commons: HSD17B1 | ||
| Context | iHOP: HSD17B1 | |
| ligand binding site mutation search in PubMed: HSD17B1 | ||
| UCL Cancer Institute: HSD17B1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for HSD17B1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G10 | T9S | BLCA | 1 | V284 | G286R | LUSC | 1 | T141 | L139S | STAD | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | T141 | L139S | -1.3189635 | G10 | T9S | -1.2483748 | V284 | G286R | -0.72364376 |
| (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 |
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| 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) |
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| Phenotype information for HSD17B1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014175 | Endometriosis | 8 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0000786 | Abortion, Spontaneous | 1 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00157 | NADH | Small molecule |  |
| Experimental|illicit | DB01536 | 4-Androstenedione | Small molecule |  |
| Experimental|illicit | DB01561 | Androstanedione | Small molecule |  |
| Nutraceutical | DB01708 | Dehydroepiandrosterone | Small molecule |  |
| Approved | DB02187 | Equilin | Small molecule |  |
| Experimental | DB02323 | EM-1745 | Small molecule |  |
| Illicit | DB02901 | Dihydrotestosterone | Small molecule |  |
| Experimental | DB03461 | 2'-Monophosphoadenosine 5'-Diphosphoribose | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HSD17B1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of HSD17B1 |
| Multiple alignments for P14061 in multiple species |
| LBS | AA sequence | # species | Species | A192 | GPVHTAFMEKV | 1 | Homo sapiens | A192 | GAVHTAFYEKL | 1 | Mus musculus | A192 | GAVHTAFHEKL | 1 | Rattus norvegicus | A92 | VLVCNAGRGLF | 2 | Mus musculus, Rattus norvegicus | A92 | VLVCNAGLGLL | 1 | Homo sapiens | C11 | VLITGCSSGIG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C186 | VSLIECGAVHT | 2 | Mus musculus, Rattus norvegicus | C186 | LSLIECGPVHT | 1 | Homo sapiens | D66 | ETLQLDVRDSK | 1 | Homo sapiens | D66 | EILELDVRDSK | 1 | Mus musculus | D66 | EILELDVRDSE | 1 | Rattus norvegicus | E195 | HTAFMEKVLGS | 1 | Homo sapiens | E195 | HTAFYEKLVGG | 1 | Mus musculus | E195 | HTAFHEKLEGG | 1 | Rattus norvegicus | E239 | PEEVTELFLTA | 2 | Mus musculus, Rattus norvegicus | E239 | PEEVAEVFLTA | 1 | Homo sapiens | E283 | TAMHREVFGDV | 1 | Homo sapiens | E283 | AAMHQEAFSNL | 1 | Mus musculus | E283 | EAMHREAFSDL | 1 | Rattus norvegicus | F193 | PVHTAFMEKVL | 1 | Homo sapiens | F193 | AVHTAFYEKLV | 1 | Mus musculus | F193 | AVHTAFHEKLE | 1 | Rattus norvegicus | F227 | GYEQALSE-AQ | 2 | Mus musculus, Rattus norvegicus | F227 | HSKQVFREAAQ | 1 | Homo sapiens | F260 | FSTNRFLPLAR | 2 | Mus musculus, Rattus norvegicus | F260 | FTTERFLPLLR | 1 | Homo sapiens | G10 | VVLITGCSSGI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G14 | TGCSSGIGLHL | 2 | Homo sapiens, Rattus norvegicus | G14 | TGCSSGIGMHL | 1 | Mus musculus | G142 | RVLVTASVGGL | 2 | Mus musculus, Rattus norvegicus | G142 | RVLVTGSVGGL | 1 | Homo sapiens | G145 | VTASVGGLMGL | 2 | Mus musculus, Rattus norvegicus | G145 | VTGSVGGLMGL | 1 | Homo sapiens | G16 | CSSGIGLHLAV | 2 | Homo sapiens, Rattus norvegicus | G16 | CSSGIGMHLAV | 1 | Mus musculus | G187 | SLIECGAVHTA | 2 | Mus musculus, Rattus norvegicus | G187 | SLIECGPVHTA | 1 | Homo sapiens | G93 | LVCNAGRGLFG | 2 | Mus musculus, Rattus norvegicus | G93 | LVCNAGLGLLG | 1 | Homo sapiens | G95 | CNAGRGLFGPL | 2 | Mus musculus, Rattus norvegicus | G95 | CNAGLGLLGPL | 1 | Homo sapiens | H222 | YQYLAHSKQVF | 1 | Homo sapiens | H222 | AHYLRGYEQAL | 1 | Mus musculus | H222 | AHYQRGYEQAL | 1 | Rattus norvegicus | I15 | GCSSGIGLHLA | 2 | Homo sapiens, Rattus norvegicus | I15 | GCSSGIGMHLA | 1 | Mus musculus | K160 | VYCASKFALEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K196 | TAFMEKVLGSP | 1 | Homo sapiens | K196 | TAFYEKLVGGP | 1 | Mus musculus | K196 | TAFHEKLEGGP | 1 | Rattus norvegicus | L150 | GGLMGLPFHEV | 2 | Mus musculus, Rattus norvegicus | L150 | GGLMGLPFNDV | 1 | Homo sapiens | L37 | KVYATLRDLKT | 1 | Homo sapiens | L37 | KVYATLRDLKA | 1 | Mus musculus | L37 | KVYATLRDLKS | 1 | Rattus norvegicus | L65 | LEILELDVRDS | 2 | Mus musculus, Rattus norvegicus | L65 | LETLQLDVRDS | 1 | Homo sapiens | L94 | VCNAGRGLFGP | 2 | Mus musculus, Rattus norvegicus | L94 | VCNAGLGLLGP | 1 | Homo sapiens | L96 | NAGRGLFGPLE | 2 | Mus musculus, Rattus norvegicus | L96 | NAGLGLLGPLE | 1 | Homo sapiens | M148 | SVGGLMGLPFH | 2 | Mus musculus, Rattus norvegicus | M148 | SVGGLMGLPFN | 1 | Homo sapiens | M194 | VHTAFMEKVLG | 1 | Homo sapiens | M194 | VHTAFYEKLVG | 1 | Mus musculus | M194 | VHTAFHEKLEG | 1 | Rattus norvegicus | M280 | NYVTAMHREVF | 1 | Homo sapiens | M280 | SYVAAMHQEAF | 1 | Mus musculus | M280 | SYVEAMHREAF | 1 | Rattus norvegicus | N153 | MGLPFHEVYCA | 2 | Mus musculus, Rattus norvegicus | N153 | MGLPFNDVYCA | 1 | Homo sapiens | N91 | DVLVCNAGRGL | 2 | Mus musculus, Rattus norvegicus | N91 | DVLVCNAGLGL | 1 | Homo sapiens | P188 | LIECGAVHTAF | 2 | Mus musculus, Rattus norvegicus | P188 | LIECGPVHTAF | 1 | Homo sapiens | R259 | YFSTNRFLPLA | 2 | Mus musculus, Rattus norvegicus | R259 | YFTTERFLPLL | 1 | Homo sapiens | R38 | VYATLRDLKTQ | 1 | Homo sapiens | R38 | VYATLRDLKAQ | 1 | Mus musculus | R38 | VYATLRDLKSQ | 1 | Rattus norvegicus | R68 | LQLDVRDSKSV | 1 | Homo sapiens | R68 | LELDVRDSKSV | 1 | Mus musculus | R68 | LELDVRDSESV | 1 | Rattus norvegicus | S12 | LITGCSSGIGL | 2 | Homo sapiens, Rattus norvegicus | S12 | LITGCSSGIGM | 1 | Mus musculus | S13 | ITGCSSGIGLH | 2 | Homo sapiens, Rattus norvegicus | S13 | ITGCSSGIGMH | 1 | Mus musculus | S143 | VLVTASVGGLM | 2 | Mus musculus, Rattus norvegicus | S143 | VLVTGSVGGLM | 1 | Homo sapiens | S223 | QYLAHSKQVFR | 1 | Homo sapiens | S223 | HYLRGYEQALS | 1 | Mus musculus | S223 | HYQRGYEQALS | 1 | Rattus norvegicus | T141 | GRVLVTASVGG | 2 | Mus musculus, Rattus norvegicus | T141 | GRVLVTGSVGG | 1 | Homo sapiens | T191 | CGPVHTAFMEK | 1 | Homo sapiens | T191 | CGAVHTAFYEK | 1 | Mus musculus | T191 | CGAVHTAFHEK | 1 | Rattus norvegicus | T36 | FKVYATLRDLK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V114 | GAVLDVNVLGT | 2 | Mus musculus, Rattus norvegicus | V114 | ASVLDVNVVGT | 1 | Homo sapiens | V144 | LVTASVGGLMG | 2 | Mus musculus, Rattus norvegicus | V144 | LVTGSVGGLMG | 1 | Homo sapiens | V189 | IECGPVHTAFM | 1 | Homo sapiens | V189 | IECGAVHTAFY | 1 | Mus musculus | V189 | IECGAVHTAFH | 1 | Rattus norvegicus | V197 | AFMEKVLGSPE | 1 | Homo sapiens | V197 | AFYEKLVGGPG | 1 | Mus musculus | V197 | AFHEKLEGGPG | 1 | Rattus norvegicus | V226 | RGYEQALSE-A | 2 | Mus musculus, Rattus norvegicus | V226 | AHSKQVFREAA | 1 | Homo sapiens | V284 | AMHREVFGDVP | 1 | Homo sapiens | V284 | AMHQEAFSNL- | 1 | Mus musculus | V284 | AMHREAFSDL- | 1 | Rattus norvegicus | V67 | TLQLDVRDSKS | 1 | Homo sapiens | V67 | ILELDVRDSKS | 1 | Mus musculus | V67 | ILELDVRDSES | 1 | Rattus norvegicus | Y156 | PFHEVYCASKF | 2 | Mus musculus, Rattus norvegicus | Y156 | PFNDVYCASKF | 1 | Homo sapiens | Y219 | HRFYQYLAHSK | 1 | Homo sapiens | Y219 | HLFAHYLRGYE | 1 | Mus musculus | Y219 | HLFAHYQRGYE | 1 | Rattus norvegicus |
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