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FLASH GENE
Symbol HSD17B3 contributors: npt/ - updated : 30-09-2005
HGNC name hydroxysteroid (17-beta) dehydrogenase 3
HGNC id 5212
Corresponding disease
HSD17B3D 17-@beta hydroxysteroid dehydrogenase III deficiency
Location 9q22.3      Physical location : 98.997.588 - 99.064.434
Synonym name
  • short chain dehydrogenase/reductase family 12C, member 2
  • testicular 17-beta-hydroxysteroid dehydrogenase
  • 17-beta-HSD 3
  • Synonym symbol(s) EDH17B3, SDR12C2, 17-beta-HSD3
    EC.number 1.1.1.62, 1.1.1.64
    DNA
    TYPE functioning gene
    STRUCTURE 66.85 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see NBCCS
    Physical map
    FLJ14675 9q22.33 hypothetical protein FLJ14675 FANCC 9q22.3 Fanconi anemia, complementation group C PSMA7P 9q22.31 proteasome (prosome, macropain) subunit, alpha type, 7 pseudogene LOC375748 9q22.33 RAD26L hypothetical protein, alternatively spliced product; similar to (AF217319) putative repair and recombination helicase RAD26L [Mus musculus] LOC56959 9q22.33 hypothetical protein from EUROIMAGE 2005326 LOC158435 9q22.33 hypothetical protein BC008050 LOC286000 9q22.33 similar to hypothetical protein BC007171 HSD17B3 9q22.3 hydroxysteroid (17-beta) dehydrogenase 3 SLC35D2 9q22.33 solute carrier family 35, member D2 ZNF367 9q22 zinc finger protein 367 HABP4 9q22.3-q31 hyaluronan binding protein 4 CDC14B 9q22.32 CDC14 cell division cycle 14 homolog B (S. cerevisiae) C9orf21 9q22.32 chromosome 9 open reading frame 21 LOC286355 9q22.33 similar to hypothetical protein ZNF510 9q22.33 zinc finger protein 510 LOC158431 9q22.33 similar to zinc finger protein 11b (KOX 2) LOC347262 9q22.33 similar to hypothetical protein FLJ40432 LOC392369 9 similar to hypothetical protein HIATL2 9q22.33 hippocampus abundant gene transcript-like 2 CTSL2 9q22.2 cathepsin L2 TCEA1P 9q22.33 transcription elongation factor A (SII), 1 pseudogene LOC340508 9q22.33 hypothetical protein LOC340508 LOC389776 9 similar to RIKEN cDNA 2810453I06 LOC392370 9 similar to SNAG1 KIAA1529 9q22.33 KIAA1529 LOC389777 9 LOC389777 LOC286359 9q22.33 hypothetical protein LOC286359 PCTAIRE2BP 9q22.33 tudor repeat associator with PCTAIRE 2 TMOD1 9q22.32-q22.33 tropomodulin 1 LOC158427 9q22.33 PP4189 NCBP1 9q34.1 nuclear cap binding protein subunit 1, 80kDa XPA 9q22.32 xeroderma pigmentosum, complementation group A LOC392371 9 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1134 34.4 310 - Persson (2009)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Nervousbrain   moderately
    Reproductivemale systemtestis  predominantly
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Hsd17b3
    ortholog to rattus Hsd17b3
    Homologene
    FAMILY
  • short-chain dehydrogenases/reductases (SDR) family
  • 17-beta-HSD 3 subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • playing an essential role in the formation of active intracellular sex steroids
  • catalyzing the conversion of androstenedione to testosterone (last step of testosterone biosynthesis)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text sex determination
    PATHWAY
    metabolism lipid/lipoprotein , hormone
    signaling
    steroid biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • NADPH
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HSD17B3D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS