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FLASH GENE
Symbol HSD3B1 contributors: - updated : 14-06-2006
HGNC name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HGNC id 5217
Location 1p13.1      Physical location : 120.049.825 - 120.057.681
Synonym symbol(s) HSD3B, HSDB3, SDI
EC.number 1.1.1.145, 5.3.3.1
DNA
TYPE functioning gene
STRUCTURE 7.00 kb     4 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map pter - AMY2A /AMY2B - D1S239 - D1S457 - D1S502 - NRAS - D1S250 - TSHB - NGFB - CD58 - MAN1A2 -D1S252 - HSD3BP5 - HSD3BP4 - HSD3BP3 - HSD3B1 - HSD3BP1 - HSD3BP2 - HSD3B2 HSD3B2 - HMGCS2 HMGCS2 - D1S514 - D1Z5 - cen
Authors Morissette (95), McBride (99), Chelala (01)
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineadrenal gland   highly
Reproductivefemale systemplacenta  highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
intraspecies homolog to HSD3B2
Homologene
FAMILY 3 beta OH dehydrogenase/isomerase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
intracellular,cytoplasm,cytosolic,microsome
basic FUNCTION
  • bifunctional enzyme, that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource MITOP database
    Susceptibility to hereditary and sporadic prostate cancer
    Variant & Polymorphism SNP B1-N367T or B2-C7519G having higher risk to develop prostate cancer
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS