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FLASH GENE
Symbol HSD17B4 contributors: /mct - updated : 18-05-2018
HGNC name hydroxysteroid (17-beta) dehydrogenase 4
HGNC id 5213
Corresponding disease
GDXD gonadal dysgenesis, XX type with deafness
ZWS4 Zellweger cerebrohepatorenal syndrome, variant type 4
Location 5q23.1      Physical location : 118.788.147 - 118.878.027
Synonym name
  • D-bifunctional protein, peroxisomal
  • varanoyl-CoA dehydrogenase and hydratase
  • multifunctional enzyme 2, D-bifunctional enzyme
  • 17-beta-estradiol dehydrogenase type IV
  • 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase
  • short chain dehydrogenase/reductase family 8C, member 1
  • Synonym symbol(s) MFE-2, MFP2, DBP, SDR8C1, EDH17B4, PRLTS1
    EC.number 4.2.1.107,1.1.1.35
    DNA
    TYPE functioning gene
    STRUCTURE 89.89 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • promoter sequence contains two putative NFKB1 elements
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 2692 79.56 736 - 2017 28296597
    24 - 2775 - 712 - 2017 28296597
    23 - 2656 - 718 - 2017 28296597
    25 - 2909 - 761 - 2017 28296597
    24 - 2835 - 596 - 2017 28296597
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Nervousbrain   lowly
    Reproductivefemale systemuterus  lowly
     male systemtestis   
     male systemprostate   
    Respiratorylung   lowly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three functional domains: an N-terminal 3-hydroxyacyl-CoA dehydrogenase domain, short chain alcohol dehydrogenase with dehydrogenase activity
  • a central 2-enoyl-CoA hydratase domain
  • C- terminus responsable for sterol transport, a C-terminal sterol carrier protein 2-like domain (SCP-2L) (Pierce 2010)
  • HOMOLOGY
    Homologene
    FAMILY
  • short-chain dehydrogenases/reductases (SDR) family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • 17 beta-hydroxysteroid dehydrogenase, catalyzing preferentially the oxidation of estradiol
  • involded in the degradation of very long chain fatty acids (VLCFA, branched chain fatty acids and shortening cholesterol for bile acid formation)
  • multifunctional peroxisomal enzyme involved in fatty acid beta-oxidation and steroid metabolism (Pierce 2010)
  • has multiple tasks in the adult brain, including the maintenance of Purkinje cells and the prevention of neuroinflammation but this is not mediated by its activity in oligodendrocytes nor by its role in very long chain fatty acid degradation
  • HSD17B4 plays an important role in aggravated hepatocellular carcinoma (HCC) progression
  • crosstalk between acetylation and chaperone-mediated autophagy (CMA) degradation in HSD17B4 regulation, and a critical role of the regulation in the malignant progression of breast cancer
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism energetic , lipid/lipoprotein
    signaling hormonal
    peroxisomal fatty acid beta-oxidation (second and third steps)
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ZWS4 , GDXD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    of HSD17B4 exerted tumor suppressive function in adrenocortical carcinoma and was not related to hormone excess
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    PDGFRA, HSD17B4 and HMGB2 are potential therapeutic targets in polycystic ovarian syndrome and breast cancer
    cancerdigestiveliver
    novel therapeutic target for hepatocellular carcinoma
    ANIMAL & CELL MODELS