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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HSD3B1 Gene

protein-coding   GIFtS: 64
GCID: GC01P120049

Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid...


(Previous symbols: HSDB3, HSD3B)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid
Delta-Isomerase 11 2
     3-Beta-Hydroxy-Delta(5)-Steroid Dehydrogenase2
HSD3B1 2     3BETAHSD2
HSDB31 2     I2
Trophoblast Antigen FDO161G2 3     SDR11E12
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type I2 3     Delta-5-3-Ketosteroid Isomerase2
3-Beta-HSD I2 3     Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta-And Steroid Delta-Isomerase
12
HSDB3A2 3     Progesterone Reductase2
Member 11     Short Chain Dehydrogenase/Reductase Family 11E, Member 12
Short Chain Dehydrogenase/Reductase Family 11E1     Steroid Delta-Isomerase2
3 Beta-Hydroxysteroid Dehydrogenase/Delta 5-->4-Isomerase Type 12     3BH3
3-Beta-Hydroxy-5-Ene Steroid Dehydrogenase2     EC 1.1.18

External Ids:    HGNC: 52171   Entrez Gene: 32832   Ensembl: ENSG000002038577   OMIM: 1097155   UniProtKB: P140603   

Export aliases for HSD3B1 gene to outside databases

Previous GC identifers: GC01P120496 GC01P118887 GC01P119105 GC01P119304 GC01P119761 GC01P119852 GC01P117908


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for HSD3B1 Gene: 
HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) is a protein-coding gene. Diseases associated with HSD3B1 include heel spur, and adrenal gland hyperfunction, and among its related super-pathways are Glucocorticoid biosynthesis and Metabolic pathways. GO annotations related to this gene include steroid delta-isomerase activity and nucleotide binding. An important paralog of this gene is HSD3B2.

UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060
Function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of
Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic
system plays a crucial role in the biosynthesis of all classes of hormonal steroids. Efficiently catalyzes the
transformation of pregnenolone to progesterone, 17-alpha-hydroxypregnenolone to 17-alpha-hydroxyprogesterone,
DHEA to 4-androstenedione, dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone
to androstenedione and 5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosterone

Gene Wiki entry for HSD3B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HSD3B1 gene promoter:
         RFX1   Sox5   Pbx1a   RelA   LCR-F1   YY1   PPAR-gamma1   COMP1   ZIC2/Zic2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHSD3B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HSD3B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HSD3B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.1   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p12

HSD3B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HSD3B1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P120049:  view genomic region     (about GC identifiers)

Start:
120,049,821 bp from pter      End:
120,057,681 bp from pter
Size:
7,861 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060 (See protein sequence)
Recommended Name: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1  
Size: 373 amino acids; 42252 Da
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane;
Single-pass membrane protein
Sequence caution: Sequence=AAA36001.1; Type=Erroneous gene model prediction;
Secondary accessions: A8K691 Q14545 Q8IV65

Explore the universe of human proteins at neXtProt for HSD3B1: NX_P14060

Explore proteomics data for HSD3B1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P14060

  • 2 DME Specific Peptides for HSD3B1 (P14060)
     VAGPNSYK  WSCLVTGAGGFLGQRI 

    HSD3B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HSD3B1 Protein Expression
    REFSEQ proteins: NP_000853.1  
    ENSEMBL proteins: 
     ENSP00000435999   ENSP00000358421   ENSP00000432268   ENSP00000235547  
    Reactome Protein details: P14060
    Human Recombinant Protein Products for HSD3B1: 
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    Novus Biologicals HSD3B1 Protein
    Novus Biologicals HSD3B1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IDA8274411
    GO:0005758mitochondrial intermembrane space IDA8274411
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0030868smooth endoplasmic reticulum membrane ISS--

    HSD3B1 for ontologies           About GeneDecksing



    HSD3B1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SDRE: Short chain dehydrogenase/reductase superfamily / Extended SDR fold

    2 InterPro protein domains:
     IPR002225 3Beta_OHSteriod_DH/Estase
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P14060

    ProtoNet protein and cluster: P14060

    1 Blocks protein domain: IPB002225 3-beta hydroxysteroid dehydrogenase/isomerase

    UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060
    Similarity: Belongs to the 3-beta-HSD family


    HSD3B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 3BHS1_HUMAN, P14060
    Function: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of
    Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic
    system plays a crucial role in the biosynthesis of all classes of hormonal steroids. Efficiently catalyzes the
    transformation of pregnenolone to progesterone, 17-alpha-hydroxypregnenolone to 17-alpha-hydroxyprogesterone,
    DHEA to 4-androstenedione, dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandrosterone
    to androstenedione and 5-alpha-androstan-3 beta,17 beta-diol to 5-alpha-dihydrotestosterone
    Catalytic activity: A 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH
    Catalytic activity: A 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid

         Genatlas biochemistry entry for HSD3B1:
    hydroxysteroid 3-beta,dehydrogenase/steroid delta 5-delta 4 isomerase,type I,NADH dependent,microsomal,expressed
    in placenta and peripheral tissues

         Enzyme Number (IUBMB): EC 1.1.12

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038543-beta-hydroxy-delta5-steroid dehydrogenase activity ISS1944309
    GO:0004769steroid delta-isomerase activity ISS1944309
    GO:0008831dTDP-4-dehydrorhamnose reductase activity ----
    GO:0016491oxidoreductase activity ----
         
    HSD3B1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HSD3B1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HSD3B1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HSD3B1 
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    miRNA
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    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HSD3B1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HSD3B1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Mineralocorticoid biosynthesis
    Mineralocorticoid biosynthesis0.71
    mineralocorticoid biosynthesis0.60
    Glucocorticoid biosynthesis0.71
    glucocorticoid biosynthesis0.50
    Glucocorticoid & Mineralcorticoid Metabolism0.67
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Androgen biosynthesis
    androgen biosynthesis0.62
    Androgen biosynthesis0.62
    4Estrone metabolism
    Androstenedione and testosterone biosynthesis and metabolism p.10.57
    Steroid Biosynthesis0.32
    5Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for HSD3B1
        Androstenedione and testosterone biosynthesis and metabolism p.1


    1 GeneGo (Thomson Reuters) Pathway for HSD3B1
        Androstenedione and testosterone biosynthesis and metabolism p.1

    5/6 BioSystems Pathways for HSD3B1 (see all 6)
        glucocorticoid biosynthesis
    mineralocorticoid biosynthesis
    Prostate Cancer
    Steroid Biosynthesis
    Glucocorticoid & Mineralcorticoid Metabolism


    5/7        Reactome Pathways for HSD3B1 (see all 7)
        Glucocorticoid biosynthesis
    Metabolism of steroid hormones and vitamin D
    Mineralocorticoid biosynthesis
    Metabolism
    Steroid hormones


    3         Kegg Pathways  (Kegg details for HSD3B1):
        Steroid hormone biosynthesis
    Metabolic pathways
    Ovarian steroidogenesis

    UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060
    Pathway: Lipid metabolism; steroid biosynthesis


    HSD3B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HSD3B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/52 Interacting proteins for HSD3B1 (ENSP000003584214) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    CYP11A1ENSP000002680534STRING: ENSP00000268053
    CYP11B1ENSP000002924274STRING: ENSP00000292427
    CYP17A1ENSP000003589034STRING: ENSP00000358903
    CYP19A1ENSP000002604334STRING: ENSP00000260433
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694steroid biosynthetic process ISS1944309
    GO:0006702androgen biosynthetic process TAS1944309
    GO:0006703estrogen biosynthetic process TAS1944309
    GO:0006704glucocorticoid biosynthetic process TAS--
    GO:0006705mineralocorticoid biosynthetic process TAS--

    HSD3B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HSD3B1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HSD3B1 (3BHS1)

    10/23 HMDB Compounds for HSD3B1 (see all 23)    About this table
    CompoundSynonyms CAS #PubMed Ids
    11b,17a,21-Trihydroxypreg-nenolone11beta,17alpha,21-Trihydroxypregnenolone (see all 2)----
    16a-Hydroxyandrost-4-ene-3,17-dione4-Androsten-16alpha-ol-3,17-dione (see all 2)63-02-5--
    16a-Hydroxydehydroisoandrosterone16-Hydroxydehydroandrosterone (see all 10)1232-73-1--
    17-Hydroxyprogesterone17-OHP (see all 15)68-96-2--
    17a,21-Dihydroxypreg-nenolone17alpha,21-Dihydroxypregnenolone (see all 2)1167-48-2--
    17a-Hydroxypregnenolone17-Hydroxy-D5-pregnenolone (see all 9)387-79-1--
    21-Hydroxypregnenolone(3b)-3,21-dihydroxy-Pregn-5-en-20-one (see all 9)1164-98-3--
    Androst-5-ene-3b,17b-diol3beta,17beta-Dihydroxy-5-androstene (see all 13)521-17-5--
    Androstenedione(4)-Androsten-3,17-dione (see all 14)63-05-8--
    Campest-4-en-3-one(24R)-ergost-4-en-3-one ----

    3 DrugBank Compounds for HSD3B1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Trilostane-- 13647-35-3targetinhibitor18991633 1944305 7996177 8809191 2268554 7989460 6362415
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 2362440 3476810 17016423 2961942
    4-Androstenedione-- 63-05-8targetpositive allosteric modulator2945972

    6 Novoseek inferred chemical compound relationships for HSD3B1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3beta-hydroxysteroid 91.1 10 17689071 (1), 19501915 (1), 9685215 (1), 14764797 (1) (see all 9)
    steroid 61.7 3 17689071 (2), 19505920 (1)
    progesterone 38.2 2 19197249 (1), 15131259 (1)
    testosterone 35.8 2 15666815 (1), 17507624 (1)
    cholesterol 15.7 4 19197249 (1), 19491374 (1), 14672738 (1), 16253961 (1)
    estrogen 3.71 1 17507624 (1)

    Search CenterWatch for drugs/clinical trials and news about HSD3B1 / 3BHS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HSD3B1 gene: 
    NM_000862.2  

    Unigene Cluster for HSD3B1:

    Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
    Hs.364941  [show with all ESTs]
    Unigene Representative Sequence: CD014103
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000531340 ENST00000369413 ENST00000492140 ENST00000487520 ENST00000528909
    ENST00000235547(uc001ehv.1)
    miRNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HSD3B1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HSD3B1

    Additional mRNA sequence: 

    AK291556.1 BC031999.1 M27137.1 M35493.1 S45679.1 X53321.1 X55997.1 

    21 DOTS entries:

    DT.100817897  DT.455031  DT.100817894  DT.100817910  DT.100817911  DT.100837575  DT.92462463  DT.104113 
    DT.100765968  DT.100817900  DT.121332825  DT.121332949  DT.100669753  DT.100768746  DT.100808929  DT.95320241 
    DT.99998554  DT.117306  DT.91861847  DT.95320255  DT.95320272 

    24/483 AceView cDNA sequences (see all 483):

    BX402476 BG985392 BX458889 CR617417 CR611960 BX094604 BX425838 CR590386 
    AV704418 AV708775 M67466 CR623220 AV710213 CR618495 AL550307 CR601599 
    CR593000 CR609339 AL540716 AV705363 AL548079 AV710380 AV705124 AV710172 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HSD3B1 expression in normal human tissues (normalized intensities)      HSD3B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTTTGCTG
    HSD3B1 Expression
    About this image


    HSD3B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Placenta (Extraembryonic Tissues)
             placenta   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See HSD3B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HSD3B1

    SOURCE GeneReport for Unigene cluster: Hs.364941

    UniProtKB/Swiss-Prot: 3BHS1_HUMAN, P14060
    Tissue specificity: Placenta and skin. Predominantly expressed in mammary gland tissue

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HSD3B1 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hsd3b65
    Hsd3b21
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6 less5
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 less1
    77.3(n)1
    71.05(a)1
      3 (42.88 cM)5
    154931  NM_153193.31  NP_694873.21 
     988055045 
    chicken
    (Gallus gallus)
    Aves HSD3B26
    3 beta-hydroxysteroid dehydrogenase 1
    50(a)
    1 → many
    1(77954029-77969647)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    49(a)
    1 → many
    GL343218.1(413351-419268)
    zebrafish
    (Danio rerio)
    Actinopterygii si:rp71-68n21.106
    hsd3b16
    si:rp71-68n21.10
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and...
    45(a)
    44(a)
    many ↔ many
    many ↔ many
    9(22227790-22233809)
    20(1295835-1299484)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG77246
    --
    25(a)
    1 → many
    3L(17048713-17051633)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG266
    C-3 sterol dehydrogenase, catalyzes the second of ...
    24(a)
    1 → many
    VII(495453-496502)


    ENSEMBL Gene Tree for HSD3B1 (if available)
    TreeFam Gene Tree for HSD3B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HSD3B1 gene
    HSD3B22  SDR42E12  SDR42E22  HSD3B72  NSDHL2  
    3 SIMAP similar genes for HSD3B1 using alignment to 3 protein entries:     3BHS1_HUMAN (see all proteins):
    HSD3B2    3-HSD 1    HSD3B7

    HSD3B1 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for HSD3B1
    PGOHUM00000244871 PGOHUM00000244872 PGOHUM00000244873 PGOHUM00000244874


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/308 SNPs in HSD3B1 are shown (see all 308)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs773369361,2
    C,F--120047960(+) AACAAA/GTCTCA 1 -- us2k11Minor allele frequency- G:0.03NA 120
    rs1121845411,2
    C,F--120048017(+) CAGTAG/ATATTT 1 -- us2k12Minor allele frequency- A:0.06WA 120
    rs729991161,2
    C,F--120048076(+) AAAACA/CAGCAA 1 -- us2k12Minor allele frequency- C:0.06WA 120
    rs1832754771,2
    C--120048125(+) CAAGAC/TAAAAC 1 -- us2k10--------
    rs798930861,2
    C,F--120048138(+) TAAATA/GTTATT 1 -- us2k11Minor allele frequency- G:0.08WA 118
    rs763328771,2
    C,F--120048144(+) TTATTA/CACTGA 1 -- us2k11Minor allele frequency- C:0.09WA 118
    rs618084801,2
    F--120048422(+) GAAAAA/TACAAA 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1446371151,2
    --120048437(+) AGCCCA/GGTGCA 1 -- us2k10--------
    rs1385294071,2
    --120048471(+) CTACTC/TCGGAG 1 -- us2k10--------
    rs75428271,2
    C,A,H--120048472(+) tacttT/Cggagg 1 -- us2k12Minor allele frequency- C:0.25WA CSA 4

    HapMap Linkage Disequilibrium report for HSD3B1 (120049821 - 120057681 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for HSD3B1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716784CNV Deletion23290073
    esv2716762CNV Deletion23290073
    nsv524727CNV Loss19592680
    esv34089CNV Loss18971310
    nsv524681CNV Gain19592680
    dgv90e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): HSD3B1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 109715    OMIM disorders: --

    20/29 diseases for HSD3B1 (see all 29):    About MalaCards
    heel spur    adrenal gland hyperfunction    mycetoma    conn's syndrome
    familial prostate cancer    patent ductus arteriosus    sertoli-leydig cell tumor    leydig cell tumor
    pseudohermaphroditism    precocious puberty    adrenocortical carcinoma    hyperandrogenism
    hypospadias    esophageal adenocarcinoma    cushing's syndrome    polycystic ovary syndrome
    essential hypertension    prostate cancer    cholera    choriocarcinoma

    8 diseases from the University of Copenhagen DISEASES database for HSD3B1:
    Pseudohermaphroditism     Polycystic ovary syndrome     Cushing's syndrome     Adrenocortical carcinoma
    Hyperandrogenism     Hypospadias     Conn's syndrome     Leydig cell tumor

    HSD3B1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for HSD3B1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenal hyperplasia congenital 62.3 1 12428206 (1)
    prostate cancer 26.7 10 11912155 (3), 19505920 (1)

    Genetic Association Database (GAD): HSD3B1
    Human Genome Epidemiology (HuGE) Navigator: HSD3B1 (35 documents)

    Export disorders for HSD3B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HSD3B1 gene, integrated from 9 sources (see all 112):
    (articles sorted by number of sources associating them with HSD3B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Full length cDNA structure and deduced amino acid sequence of human 3 beta-hydroxy-5-ene steroid dehydrogenase. (PubMed id 2779585)1, 2, 3 Luu-The V.... Labrie C. (1989)
    2. The hormonal phenotype of nonclassic 3 beta-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency. (PubMed id 14764797)1, 4, 9 Carbunaru G.... Pang S. (2004)
    3. Joint effect of HSD3B1 and HSD3B2 genes is associated with hereditary and sporadic prostate cancer susceptibility. (PubMed id 11912155)1, 4, 9 Chang B.L....Xu J. (2002)
    4. Molecular cloning and expression of human trophoblast antigen FDO161G and its identification as 3 beta-hydroxy-5-ene steroid dehydrogenase. (PubMed id 1920284)1, 2, 9 Nickson D.A.... Sutcliffe R.G. (1991)
    5. Steroid biosynthesis and renal excretion in human essential hypertension: association with blood pressure and endogenous ouabain. (PubMed id 19197249)1, 4, 9 Tripodi G....Manunta P. (2009)
    6. Single and multigenic analysis of the association bet ween variants in 12 steroid hormone metabolism genes and risk of prostate cance r. (PubMed id 19505920)1, 4, 9 Beuten J....Leach R.J. (2009)
    7. Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer. (PubMed id 17507624)1, 4, 9 Cunningham J.M....Thibodeau S.N. (2007)
    8. Comprehensive analysis of common genetic variation in 61 genes related to steroid hormone and insulin-like growth factor-I metabolis m and breast cancer risk in the NCI breast and prostate cancer cohort consortiu m. (PubMed id 20634197)1, 4 Canzian F....Feigelson H.S. (2010)
    9. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3283 HGNC: 5217 AceView: HSD3B2andHSD3B1andLOC440606 Ensembl:ENSG00000203857 euGenes: HUgn3283
    ECgene: HSD3B1 Kegg: 3283 H-InvDB: HSD3B1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HSD3B1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HSD3B1 gene:
    Search GeneIP for patents involving HSD3B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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