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HSD17B1 (hydroxysteroid 17-beta dehydrogenase 1)

Identity

Alias_namesEDHB17
EDH17B2
hydroxysteroid (17-beta) dehydrogenase 1
Alias_symbol (synonym)HSD17
MGC138140
SDR28C1
Other alias17-beta-HSD
20-alpha-HSD
E2DH
HGNC (Hugo) HSD17B1
LocusID (NCBI) 3292
Atlas_Id 40867
Location 17q21.2  [Link to chromosome band 17q21]
Location_base_pair Starts at 42552558 and ends at 42555214 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HSD17B1   5210
Cards
Entrez_Gene (NCBI)HSD17B1  3292  hydroxysteroid 17-beta dehydrogenase 1
Aliases17-beta-HSD; 20-alpha-HSD; E2DH; EDH17B2; 
EDHB17; HSD17; SDR28C1
GeneCards (Weizmann)HSD17B1
Ensembl hg19 (Hinxton)ENSG00000108786 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108786 [Gene_View]  chr17:42552558-42555214 [Contig_View]  HSD17B1 [Vega]
ICGC DataPortalENSG00000108786
TCGA cBioPortalHSD17B1
AceView (NCBI)HSD17B1
Genatlas (Paris)HSD17B1
WikiGenes3292
SOURCE (Princeton)HSD17B1
Genetics Home Reference (NIH)HSD17B1
Genomic and cartography
GoldenPath hg38 (UCSC)HSD17B1  -     chr17:42552558-42555214 +  17q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSD17B1  -     17q21.2   [Description]    (hg19-Feb_2009)
EnsemblHSD17B1 - 17q21.2 [CytoView hg19]  HSD17B1 - 17q21.2 [CytoView hg38]
Mapping of homologs : NCBIHSD17B1 [Mapview hg19]  HSD17B1 [Mapview hg38]
OMIM109684   
Gene and transcription
Genbank (Entrez)AK127832 AK300143 AK300159 AK300452 AK316292
RefSeq transcript (Entrez)NM_000413 NM_001330219
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSD17B1
Cluster EST : UnigeneHs.655222 [ NCBI ]
CGAP (NCI)Hs.655222
Alternative Splicing GalleryENSG00000108786
Gene ExpressionHSD17B1 [ NCBI-GEO ]   HSD17B1 [ EBI - ARRAY_EXPRESS ]   HSD17B1 [ SEEK ]   HSD17B1 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD17B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3292
GTEX Portal (Tissue expression)HSD17B1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14061   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14061  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14061
Splice isoforms : SwissVarP14061
Catalytic activity : Enzyme1.1.1.62 [ Enzyme-Expasy ]   1.1.1.621.1.1.62 [ IntEnz-EBI ]   1.1.1.62 [ BRENDA ]   1.1.1.62 [ KEGG ]   
PhosPhoSitePlusP14061
Domaine pattern : Prosite (Expaxy)ADH_SHORT (PS00061)   
Domains : Interpro (EBI)17beta_DH    NAD(P)-bd_dom    Sc_DH/Rdtase_CS    SDR_fam   
Domain families : Pfam (Sanger)adh_short (PF00106)   
Domain families : Pfam (NCBI)pfam00106   
Conserved Domain (NCBI)HSD17B1
DMDM Disease mutations3292
Blocks (Seattle)HSD17B1
PDB (SRS)1A27    1BHS    1DHT    1EQU    1FDS    1FDT    1FDU    1FDV    1FDW    1I5R    1IOL    1JTV    1QYV    1QYW    1QYX    3DEY    3DHE    3HB4    3HB5    3KLM    3KLP    3KM0   
PDB (PDBSum)1A27    1BHS    1DHT    1EQU    1FDS    1FDT    1FDU    1FDV    1FDW    1I5R    1IOL    1JTV    1QYV    1QYW    1QYX    3DEY    3DHE    3HB4    3HB5    3KLM    3KLP    3KM0   
PDB (IMB)1A27    1BHS    1DHT    1EQU    1FDS    1FDT    1FDU    1FDV    1FDW    1I5R    1IOL    1JTV    1QYV    1QYW    1QYX    3DEY    3DHE    3HB4    3HB5    3KLM    3KLP    3KM0   
PDB (RSDB)1A27    1BHS    1DHT    1EQU    1FDS    1FDT    1FDU    1FDV    1FDW    1I5R    1IOL    1JTV    1QYV    1QYW    1QYX    3DEY    3DHE    3HB4    3HB5    3KLM    3KLP    3KM0   
Structural Biology KnowledgeBase1A27    1BHS    1DHT    1EQU    1FDS    1FDT    1FDU    1FDV    1FDW    1I5R    1IOL    1JTV    1QYV    1QYW    1QYX    3DEY    3DHE    3HB4    3HB5    3KLM    3KLP    3KM0   
SCOP (Structural Classification of Proteins)1A27    1BHS    1DHT    1EQU    1FDS    1FDT    1FDU    1FDV    1FDW    1I5R    1IOL    1JTV    1QYV    1QYW    1QYX    3DEY    3DHE    3HB4    3HB5    3KLM    3KLP    3KM0   
CATH (Classification of proteins structures)1A27    1BHS    1DHT    1EQU    1FDS    1FDT    1FDU    1FDV    1FDW    1I5R    1IOL    1JTV    1QYV    1QYW    1QYX    3DEY    3DHE    3HB4    3HB5    3KLM    3KLP    3KM0   
SuperfamilyP14061
Human Protein AtlasENSG00000108786
Peptide AtlasP14061
HPRD00185
IPIIPI00218721   IPI01010509   IPI00176562   IPI00746065   
Protein Interaction databases
DIP (DOE-UCLA)P14061
IntAct (EBI)P14061
FunCoupENSG00000108786
BioGRIDHSD17B1
STRING (EMBL)HSD17B1
ZODIACHSD17B1
Ontologies - Pathways
QuickGOP14061
Ontology : AmiGOcatalytic activity  estradiol 17-beta-dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  steroid binding  cytoplasm  cytosol  cytosol  steroid biosynthetic process  estrogen biosynthetic process  estrogen biosynthetic process  estrogen metabolic process  oxidation-reduction process  NADP+ binding  estradiol binding  
Ontology : EGO-EBIcatalytic activity  estradiol 17-beta-dehydrogenase activity  estradiol 17-beta-dehydrogenase activity  steroid binding  cytoplasm  cytosol  cytosol  steroid biosynthetic process  estrogen biosynthetic process  estrogen biosynthetic process  estrogen metabolic process  oxidation-reduction process  NADP+ binding  estradiol binding  
Pathways : KEGGSteroid hormone biosynthesis    Ovarian steroidogenesis   
NDEx NetworkHSD17B1
Atlas of Cancer Signalling NetworkHSD17B1
Wikipedia pathwaysHSD17B1
Orthology - Evolution
OrthoDB3292
GeneTree (enSembl)ENSG00000108786
Phylogenetic Trees/Animal Genes : TreeFamHSD17B1
HOVERGENP14061
HOGENOMP14061
Homologs : HomoloGeneHSD17B1
Homology/Alignments : Family Browser (UCSC)HSD17B1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD17B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD17B1
dbVarHSD17B1
ClinVarHSD17B1
1000_GenomesHSD17B1 
Exome Variant ServerHSD17B1
ExAC (Exome Aggregation Consortium)HSD17B1 (select the gene name)
Genetic variants : HAPMAP3292
Genomic Variants (DGV)HSD17B1 [DGVbeta]
DECIPHERHSD17B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSD17B1 
Mutations
ICGC Data PortalHSD17B1 
TCGA Data PortalHSD17B1 
Broad Tumor PortalHSD17B1
OASIS PortalHSD17B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD17B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD17B1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HSD17B1
DgiDB (Drug Gene Interaction Database)HSD17B1
DoCM (Curated mutations)HSD17B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD17B1 (select a term)
intoGenHSD17B1
Cancer3DHSD17B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM109684   
Orphanet
MedgenHSD17B1
Genetic Testing Registry HSD17B1
NextProtP14061 [Medical]
TSGene3292
GENETestsHSD17B1
Huge Navigator HSD17B1 [HugePedia]
snp3D : Map Gene to Disease3292
BioCentury BCIQHSD17B1
ClinGenHSD17B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3292
Chemical/Pharm GKB GenePA29478
Clinical trialHSD17B1
Miscellaneous
canSAR (ICR)HSD17B1 (select the gene name)
Probes
Litterature
PubMed137 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD17B1
EVEXHSD17B1
GoPubMedHSD17B1
iHOPHSD17B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:19:32 CEST 2017

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