Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HSD17B1 contributors: mct - updated : 19-05-2009
HGNC name hydroxysteroid (17-beta) dehydrogenase 1
HGNC id 5210
Corresponding disease
HAPOD hirsutism with amenorrhea and polycystic ovarian disease
Location 17q21.2      Physical location : 40.703.983 - 40.707.224
Synonym name
  • steroid 17-ketoreductase
  • estradiol 17-beta-dehydrogenase-1
  • short chain dehydrogenase/reductase family 28CE, member 1
  • placental 17-beta-hydroxysteroid dehydrogenase
    • Synonym symbol(s) EDH17B2, HSD17, EDH17, EDHB17, 20-alpha-HSD, E17KSR, E2DH, MGC138140, SDR28C1
    EC.number 1.1.1.62
    DNA
    TYPE functioning gene
    STRUCTURE 3.25 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2248 35 328 - 2009 19061935
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text ovary
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • short chain alcohol dehydrogenase
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Hsd17b1
    Homologene
    FAMILY
  • short-chain dehydrogenase/reductase (SDR) family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • 17 beta-hydroxysteroid dehydrogenase,type I, NAD dependent
  • converting estrogens and androgens playing an essential role in the formation of active intracellular sex steroids
  • key steroidogenic enzyme that catalyses the final step of estradiol biosynthesis
  • converts weak estrogen estrone to estradiol, and with lower catalytic efficiency, weak androgen androstenedione to testosterone
  • may contributes to maintain the normal steroid hormone concentration during development
  • key steroidogenic enzyme that catalyses the final step of estradiol biosynthesis
  • its multispecificity is important for steroid metabolism in gonadal and peripheral tissues, and is a consequence of the architecture of its binding and catalytic sites
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , hormone
    signaling hormonal
    glucocorticoid, biosynthesis of estrogenes
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HAPOD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    may contribute to hypothalamic obesity
    constitutional     --over  
    increase in the fetal expression could contribute to the development of hormonal imbalances, and so result in female masculinization
    tumoral   amplification    
    showed lower breast cancer survival in postmenopausal breast cancer than patients without amplification
    Susceptibility
  • to breast cancer
    • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    over-expression of human HSD17B1 in transgenic mice results in masculinized phenotype in female mice and in addition to the Müllerian ducts, HSD17B1TG females have internal structures resembling Wolffian ducts, and enlarged Skene paraurethral gland, also called the female prostate