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FLASH GENE
Symbol HSD17B12 contributors: mct/npt - updated : 15-04-2008
HGNC name hydroxysteroid (17-beta) dehydrogenase 12
HGNC id 18646
Location 11p11.2      Physical location : 43.702.142 - 43.878.160
Synonym name
  • 3-ketoacyl-CoA reductase
  • steroid dehydrogenase homolog
  • likely ortholog of mouse Kik1 steroid dehydrogenase
    • Synonym symbol(s) KAR
    EC.number 1.1.1.62, 1.3.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 176.00 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2556 34.3 312 - Sakurai (2006)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Respiratoryrespiratory tracttrachea  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane domains
  • dilysin ER retention motif
    • HOMOLOGY
    interspecies homolog to Drosophila CG1444
    homolog to C.elegans C56G2.6
    Homologene
    FAMILY
  • short chain dehydrogenase superfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • transforming estrone (E1) into estradiol (E2)
  • having a 3-ketoacylCoA reductase activity
  • may playing a critical roles in the physiological processes, such as fatty acid synthesis, in addition to the steroid metabolism
  • major estrogenic 17beta-HSD responsible for the conversion of E1 to E2 in women, especially in the ovary, the predominant source of estrogens before menopause
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    long chain fatty acid elongation
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS