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FLASH GENE
Symbol XDH contributors: mct - updated : 10-05-2017
HGNC name xanthine dehydrogenase
HGNC id 12805
DNA
TYPE functioning gene
STRUCTURE 80.46 kb     36 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure NF-Y binding site considerably increases the promoter activity (important functional role for NF-Y in the transcriptional activation)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
36 - 5717 - 1333 - 2017 28299863
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon  
 intestinesmall intestine   
 liver    
Endocrineneuroendocrinepituitary   
Respiratoryrespiratory tractlarynx   
cells
SystemCellPubmedSpeciesStageRna symbol
Digestivehepatocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , dimer
HOMOLOGY
Homologene
FAMILY
  • xanthine dehydrogenase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    text expressed primarily in hepatocytes, but is also present in bile duct epithelial cells and is secreted into bile
    basic FUNCTION
  • xanthine oxidase (dehydrogenase), catalyzing the oxidation of hypoxanthine to purine and purine to uric acid
  • plays a physiological role in milk (e.g. in secretion) equal in importance to its catalytic function as an enzyme
  • synergistic action with ALOXE3, group of oxidized fatty acids which can function as PPAR{gamma} activators
  • required for functional differentiation of mammary epithelial cells
  • XDH activity and/or its expression level to contribute to macrophage foam cell formation
  • activity creates both oxidant and anti-oxidant products that are implicated in the development of hypertension, smoking vascular injury, dyslipidemia and diabetes, which are the main risk factors of atherosclerosis
  • is abundant in wounds and participates in normal wound healing through effects on ROS production
  • catalyzes the formation of uric acid (UA) from hypoxanthine and xanthine, which in turn are products of purine metabolism starting from ribose-5-phosphate
  • XDH activity may be potentially involved in adiposity and subclinical inflammation in humans
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • noncanonical molecular pathway in which, after the inhibition of CTSS, autophagy induces early ROS production for oxidative DNA damage and cell death through XDH
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HGF prevents XDH activation following hypoxia/reoxygenation (H/R) primarily by inhibiting the JAK2 signaling pathway and in turn, inhibiting the increase in cytosolic Ca2+
  • DKK3 promotes cell survival during oxidative stress by suppressing the expression of the superoxide-producing enzyme XDH
  • cell & other
    REGULATION
    activated by is not only activated by pro-inflammatory stimuli or stem cell growth factor (SCF) but also plays an important role in maintaining MTOR-dependent translational control during the biological responses of human myeloid cells
    ASSOCIATED DISORDERS
    corresponding disease(s) XDH1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in liver disease (cirrhosis)
    Susceptibility to hypertension
    Variant & Polymorphism other
  • XDH gene polymorphisms rs1042039, rs1054889, and rs2073316 may be associated with hypertension
  • Candidate gene
    Marker is a breast cancer biomarker
    Therapy target
    SystemTypeDisorderPubmed
    diabetemetabolic syndrom 
    XDH inhibitors may be useful for preventing atherosclerosis
    cancerreproductivebreast
    target for pharmacologic activation in therapeutic management of aggressive breast cancer
    ANIMAL & CELL MODELS