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FLASH GENE
Symbol TYMP contributors: npt - updated : 16-10-2010
HGNC name thymidine phosphorylase
HGNC id 3148
Corresponding disease
MNGIE mitochondrial neurogastrointestinal encephalopathy syndrome
Location 22q13.33      Physical location : 50.964.183 - 50.968.514
Synonym name
  • gliostatin
  • thymidine phosphorylase
  • endothelial cell growth factor 1 (platelet-derived)
  • Synonym symbol(s) TP, PDECGF, PDECGF, ECGF1, MNGIE, TdRPase, hPD-ECGF
    EC.number 2.4.2.4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text the promoter lacks a TATA box and a CCAAT box, six copies of potential Sp1-binding sites are clustered upstream of the transcription start sites
    STRUCTURE 4.33 kb     10 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - D22S922 - D22S1169 - TYMP - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 splicing 1671 49 482 - -
    10 splicing 1587 49 482 - -
    10 splicing 1659 49 482 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain    
    Reproductivefemale systemplacenta  highly
     female systemuteruscervix highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two glycosyltransferaqe domains
  • pyrimidine nucleoside phosphorylase C-terminal domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to TYMP, Pan troglodytes
    ortholog to Tymp, Rattus norvegicus
    ortholog to Tymp, Mus musculus
    Homologene
    FAMILY
  • thymidine/pyrimidine-nucleoside phosphorylase family
  • CATEGORY signaling cytokine growth factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • an angiogenic factor which stimulates endothelial cell growth in vitro and promotes angiogenesis in vivo
  • has thymidine phosphorylase activity
  • regulates intracellular and plasma thymidine levels
  • involved in nucleotide salvage angiogenesis through release of the endothelial cell chemoattractant 2-deoxy-D-ribose
  • may play an important role in tumor progression by preventing hypoxia-induced apoptosis
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    text catalyzes the reversible phosphorolysis of thymidine
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • strong binding of HNRNPH1/HNRNPH2 to TYMP pre-mRNA, hence implicating them in TYMP splicing
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MNGIE
    Susceptibility to thymidine phosphorylase enhances the invasion of tumor cells through the induction of invasion-related genes
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    mitochondrial disease  
    administration of a single dose of erythrocyte-encapsulated thymidine phosphorylase to a severely affected individual resulted in partial reductions of thymidine and deoxyuridine in blood and urine
    ANIMAL & CELL MODELS
  • mice deficient in the Tymp gene have no thymidine phosphorylase activity (TP) in liver. Tymp-uridine phosphorylase double-knockout mice have no TP activities and higher thymidine level in plasma and display brain lesionsand axonal edema
  • thymidine phosphorylase (TP) and uridine phosphorylase (UP) double knockout mice have evere TP deficiency, increased thymidine and deoxyuridine in tissues, elevated mitochondrial deoxythymidine triphosphate, partial depletion of mtDNA in brain, deficiencies of respiratory chain complexes and encephalopathy