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HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1)

Identity

Alias_namesmember 1
HSDB3
HSD3B
Alias_symbol (synonym)SDR11E1
Other alias3BETAHSD
HSDB3A
I
HGNC (Hugo) HSD3B1
LocusID (NCBI) 3283
Atlas_Id 43937
Location 1p12  [Link to chromosome band 1p12]
Location_base_pair Starts at 119507203 and ends at 119515058 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
JARID2 (6p22.3) / HSD3B1 (1p12)JARID2 6p22.3 / HSD3B1 1p12

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)HSD3B1   5217
Cards
Entrez_Gene (NCBI)HSD3B1  3283  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
Aliases3BETAHSD; HSD3B; HSDB3; HSDB3A; 
I; SDR11E1
GeneCards (Weizmann)HSD3B1
Ensembl hg19 (Hinxton)ENSG00000203857 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000203857 [Gene_View]  chr1:119507203-119515058 [Contig_View]  HSD3B1 [Vega]
ICGC DataPortalENSG00000203857
TCGA cBioPortalHSD3B1
AceView (NCBI)HSD3B1
Genatlas (Paris)HSD3B1
WikiGenes3283
SOURCE (Princeton)HSD3B1
Genetics Home Reference (NIH)HSD3B1
Genomic and cartography
GoldenPath hg38 (UCSC)HSD3B1  -     chr1:119507203-119515058 +  1p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HSD3B1  -     1p12   [Description]    (hg19-Feb_2009)
EnsemblHSD3B1 - 1p12 [CytoView hg19]  HSD3B1 - 1p12 [CytoView hg38]
Mapping of homologs : NCBIHSD3B1 [Mapview hg19]  HSD3B1 [Mapview hg38]
OMIM109715   
Gene and transcription
Genbank (Entrez)AK291556 AL544564 AL550307 BC031999 DQ891161
RefSeq transcript (Entrez)NM_000862 NM_001328615
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HSD3B1
Cluster EST : UnigeneHs.364941 [ NCBI ]
CGAP (NCI)Hs.364941
Alternative Splicing GalleryENSG00000203857
Gene ExpressionHSD3B1 [ NCBI-GEO ]   HSD3B1 [ EBI - ARRAY_EXPRESS ]   HSD3B1 [ SEEK ]   HSD3B1 [ MEM ]
Gene Expression Viewer (FireBrowse)HSD3B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3283
GTEX Portal (Tissue expression)HSD3B1
Human Protein AtlasENSG00000203857-HSD3B1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14060   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP14060  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP14060
Splice isoforms : SwissVarP14060
Catalytic activity : Enzyme1.1.1.145 [ Enzyme-Expasy ]   1.1.1.1451.1.1.145 [ IntEnz-EBI ]   1.1.1.145 [ BRENDA ]   1.1.1.145 [ KEGG ]   
PhosPhoSitePlusP14060
Domains : Interpro (EBI)3Beta_OHSteriod_DH/Estase    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)3Beta_HSD (PF01073)   
Domain families : Pfam (NCBI)pfam01073   
Conserved Domain (NCBI)HSD3B1
DMDM Disease mutations3283
Blocks (Seattle)HSD3B1
SuperfamilyP14060
Human Protein Atlas [tissue]ENSG00000203857-HSD3B1 [tissue]
Peptide AtlasP14060
HPRD04920
IPIIPI00843838   IPI00246994   
Protein Interaction databases
DIP (DOE-UCLA)P14060
IntAct (EBI)P14060
FunCoupENSG00000203857
BioGRIDHSD3B1
STRING (EMBL)HSD3B1
ZODIACHSD3B1
Ontologies - Pathways
QuickGOP14060
Ontology : AmiGO3-beta-hydroxy-delta5-steroid dehydrogenase activity  3-beta-hydroxy-delta5-steroid dehydrogenase activity  steroid delta-isomerase activity  steroid delta-isomerase activity  mitochondrial inner membrane  mitochondrial intermembrane space  endoplasmic reticulum membrane  steroid biosynthetic process  androgen biosynthetic process  estrogen biosynthetic process  glucocorticoid biosynthetic process  mineralocorticoid biosynthetic process  integral component of membrane  smooth endoplasmic reticulum membrane  oxidation-reduction process  
Ontology : EGO-EBI3-beta-hydroxy-delta5-steroid dehydrogenase activity  3-beta-hydroxy-delta5-steroid dehydrogenase activity  steroid delta-isomerase activity  steroid delta-isomerase activity  mitochondrial inner membrane  mitochondrial intermembrane space  endoplasmic reticulum membrane  steroid biosynthetic process  androgen biosynthetic process  estrogen biosynthetic process  glucocorticoid biosynthetic process  mineralocorticoid biosynthetic process  integral component of membrane  smooth endoplasmic reticulum membrane  oxidation-reduction process  
Pathways : KEGGSteroid hormone biosynthesis    Ovarian steroidogenesis   
NDEx NetworkHSD3B1
Atlas of Cancer Signalling NetworkHSD3B1
Wikipedia pathwaysHSD3B1
Orthology - Evolution
OrthoDB3283
GeneTree (enSembl)ENSG00000203857
Phylogenetic Trees/Animal Genes : TreeFamHSD3B1
HOVERGENP14060
HOGENOMP14060
Homologs : HomoloGeneHSD3B1
Homology/Alignments : Family Browser (UCSC)HSD3B1
Gene fusions - Rearrangements
Fusion : MitelmanJARID2/HSD3B1 [6p22.3/1p12]  [t(1;6)(p12;p22)]  
Fusion: TCGA_MDACCJARID2 6p22.3 HSD3B1 1p12 LUAD
Tumor Fusion PortalHSD3B1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHSD3B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HSD3B1
dbVarHSD3B1
ClinVarHSD3B1
1000_GenomesHSD3B1 
Exome Variant ServerHSD3B1
ExAC (Exome Aggregation Consortium)ENSG00000203857
GNOMAD BrowserENSG00000203857
Genetic variants : HAPMAP3283
Genomic Variants (DGV)HSD3B1 [DGVbeta]
DECIPHERHSD3B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHSD3B1 
Mutations
ICGC Data PortalHSD3B1 
TCGA Data PortalHSD3B1 
Broad Tumor PortalHSD3B1
OASIS PortalHSD3B1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHSD3B1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHSD3B1
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch HSD3B1
DgiDB (Drug Gene Interaction Database)HSD3B1
DoCM (Curated mutations)HSD3B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HSD3B1 (select a term)
intoGenHSD3B1
Cancer3DHSD3B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM109715   
Orphanet
DisGeNETHSD3B1
MedgenHSD3B1
Genetic Testing Registry HSD3B1
NextProtP14060 [Medical]
TSGene3283
GENETestsHSD3B1
Target ValidationHSD3B1
Huge Navigator HSD3B1 [HugePedia]
snp3D : Map Gene to Disease3283
BioCentury BCIQHSD3B1
ClinGenHSD3B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3283
Chemical/Pharm GKB GenePA29486
Clinical trialHSD3B1
Miscellaneous
canSAR (ICR)HSD3B1 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHSD3B1
EVEXHSD3B1
GoPubMedHSD3B1
iHOPHSD3B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:16:56 CET 2017

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