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FLASH GENE
Symbol XDH contributors: mct - updated : 10-05-2017
HGNC name xanthine dehydrogenase
HGNC id 12805
Corresponding disease
XDH1 xanthinuria type I
Location 2p23.1      Physical location : 31.557.187 - 31.637.611
Synonym name
  • xanthine oxidase
  • xanthine oxidoreductase
  • xanthine dehydrogenase/oxidase
  • Synonym symbol(s) XO, XOR, XDHA, XAN1, XOD
    EC.number 1.17.1.4, 1.17.3.2
    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
    Physical map
    FLJ23306 2p23.3 hypothetical protein FLJ23306 LOC388937 2 similar to Phospholipase PLB PPP1CB 2p23 protein phosphatase 1, catalytic subunit, beta isoform SPY1 2p23.3 speedy FLJ20628 2p23.3 hypothetical protein FLJ20628 KIAA0007 2p23.3 KIAA0007 protein LOC388938 2 LOC388938 LOC165186 2p23.3 similar to RIKEN cDNA 4632412N22 gene LOC388939 2 similar to BC027072 protein FLJ21069 2p23.3 hypothetical protein FLJ21069 ALK 2p23 anaplastic lymphoma kinase (Ki-1) CGI-127 2p23.3 yippee protein LBH 2p23.3 likely ortholog of mouse limb-bud and heart gene FLJ37965 CAPN13 2p22-p21 likely ortholog of mouse limb-bud and heart gene GALNT14 2p23.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) EHD3 2p21.1 EH-domain containing 3 LOC391361 2 similar to ribosomal protein L21 XDH 2p23-p22.2 xanthine dehydrogenase SRD5A2 2p23 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) LOC391362 2 similar to human alpha-catenin LOC339736 2p23.2 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) CGI-27 2p23.2 C21orf19-like protein LOC84661 2p23.2 dpy-30-like protein SPG4 2p22-p21 spastic paraplegia 4 (autosomal dominant; spastin) SLC30A6 2p22.3 solute carrier family 30 (zinc transporter), member 6 RH-II/GuBp1 2p22-p21 RH-II/GuB pseudogene 1 CARD12 2p22-p21 caspase recruitment domain family, member 12 MGC11061 2p23.2 hypothetical protein MGC11061 BIRC6 2p22-p21 baculoviral IAP repeat-containing 6 (apollon) FLJ20272 2p23.2-p23.1 hypothetical protein FLJ20272 LOC391363 2 similar to Latent transforming growth factor beta binding protein, isoform 1L precursor (LTBP-1) (Transforming growth factor beta-1 binding protein 1) (TGF-beta1-BP-1) LTBP1 2p22-p21 latent transforming growth factor beta binding protein 1 RASGRP3 2p25.1-p24.1 RAS guanyl releasing protein 3 (calcium and DAG-regulated) DKFZP564F0522 2p23.1 DKFZP564F0522 protein LOC391364 2 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC151325 2p23.1 similar to hypothetical protein BC013995 LOC344371 2p23.1 similar to ADP,ATP carrier protein, fibroblast isoform (ADP/ATP translocase 2) (Adenine nucleotide translocator 2) (ANT 2)
    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