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FLASH GENE
Symbol APRT contributors: mct/npt - updated : 14-10-2009
HGNC name adenine phosphoribosyltransferase
HGNC id 626
Corresponding disease
APRT urolithiasis
Location 16q24.3      Physical location : 88.875.878 - 88.878.342
Synonym name
  • transphosphoribosidase
  • AMP pyrophosphorylase
  • AMP diphosphorylase
  • Synonym symbol(s) MGC125857, MGC125856, DKFZp686D13177, MGC129961, AMP
    EC.number 2.4.2.7
    DNA
    TYPE functioning gene
    STRUCTURE 2.47 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    text structure no TATA, no CCATT, five CpG boxes
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 807 19.4 180 - Taniguchi, Silva (2008)
    5 - 673 - 134 - Taniguchi, Silva (2008)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary   
     male systemprostate   
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • phosphoribosyl transferase domain
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus aprt
    Homologene
    FAMILY
  • purine/pyrimidine phosphoribosyltransferase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • synthesis of AMP from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP)
  • purine salvage pathway
  • important enzyme component of the purine recycling pathway (Silva 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    purine ribonucleoside salvage
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) APRT
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS