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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
    Physical map
    BANP 16q24 dipeptidase 1 (renal) LOC388306 16 LOC388306 LOC390747 16 similar to proline rich protein ZNF469 16q24 zinc finger protein 469 ZFPM1 16q24.3 zinc finger protein, multitype 1 LOC124245 16q24.3 hypothetical protein BC001584 IL17C 16q24 interleukin 17C CYBA 16q24.2 cytochrome b-245, alpha polypeptide MVD 16q24.2 mevalonate (diphospho) decarboxylase SNAI3 16q24.3 snail homolog 3 (Drosophila) MGC2647 16q24.3 hypothetical zinc finger protein MGC2647 LOC388307 16 similar to LOC348180 protein LOC348180 16q24.3 hypothetical protein LOC348180 KIAA0233 16q24.3 hypothetical protein LOC348180 FLJ40448 16q24.3 hypothetical protein FLJ40448 CDT1 16q24.3 DNA replication factor APRT 16q24.3 adenine phosphoribosyltransferase GALNS 16q24.2 galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) LOC51693 16q24.3 unknown LOC390748 16 similar to putative polyA-binding protein PABPN2/ePABP2 CBFA2T3 16q24.3 core-binding factor, runt domain, alpha subunit 2; translocated to, 3 LOC390749 16 LOC390749 LOC197322 16q24.3 hypothetical protein LOC197322 FLJ36701 16q24.3 hypothetical protein FLJ36701 CDH15 16q24.3 cadherin 15, M-cadherin (myotubule) LOC388308 16 similar to Brain-type organic cation transporter FLJ31875 16q24.3 hypothetical protein FLJ31875 ANKRD11 16q24.3 ankyrin repeat domain 16 LOC390750 16 similar to Hypothetical protein CBG22662 LOC390751 16 LOC390751 SPG7 16q24.3 spastic paraplegia 7, paraplegin (pure and complicated autosomal recessive) RPL13 16q24.3 ribosomal protein L13 CPNE7 16q24.3 copine VII DPEP1 16q24.3 dipeptidase 1 (renal)
    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