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FLASH GENE
Symbol HSD3B7 contributors: mct/npt - updated : 07-03-2009
HGNC name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HGNC id 18324
Corresponding disease
PFIC4 cholestasis progressive familial intrahepatic 4
Location 16p11.2      Physical location : 30.996.518 - 31.000.473
Synonym name
  • 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase
  • short chain dehydrogenase/reductase family 11E, member 3
  • 3-beta-HSD VII
  • Synonym symbol(s) C(27)-3BETA-HSD, PFIC4, SDR11E3
    EC.number 1.1.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 3.94 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text variants 2 and 3 encode the same protein
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2233 21.2 196 - Persson (2008)
    - - 2040 21.2 196 - Persson (2008)
    7 - 2203 41 369 - Persson (2008)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Digestiveliver   predominantly
    Endocrinepancreas   highly
    Reproductivefemale systemuteruscervix  
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta, lowly
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to rattus hsd3b7
    ortholog to murine Hsd3b7
    Homologene
    FAMILY
  • 3-beta-hydroxysteroid dehydrogenase/isomerase (HSD) family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • 3-beta-hydroxy-delta-5-steroid dehydrogenase activity
  • plays a crucial role in the biosynthesis of all classes of hormonal steroids
  • involved in the metabolism of a large variety of compounds, including steroid hormones, prostaglandins, retinoids, lipids and xenobiotics (Persson 2008)
  • involved in bile acid synthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein , hormone
    signaling
    steroid biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PFIC4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in neonatal progressive intrahepatic cholestasis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS