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FLASH GENE
Symbol HPRT1 contributors: mct/npt - updated : 15-07-2008
HGNC name hypoxanthine phosphoribosyltransferase 1
HGNC id 5157
Corresponding disease
GHPR gout, HPRT-related
HPRT1D hypoxanthine guanine phosphoribosyltransferase 1 deficiency
Location Xq26.3      Physical location : 133.594.174 - 133.634.696
Synonym name
  • hypoxanthine-guanine phosphoribosyltransferase
  • HGPRTase
    • Synonym symbol(s) HPRT, HGPRT, HGPRTase
    EC.number 2.4.2.8
    DNA
    TYPE functioning gene
    STRUCTURE 40.52 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - DXS11 - DXS42 - DXS425 - DXS53 - DXS79 - HPRT1 - DXS86 - DXS10 - DXS177 - DXS144E - TNFSF5 - DXS300 - DXS1062 - DXS294 /DXS730 - DXS51 - DXS102 - F9
    Authors Little (92), Schlessinger (93), Pilia (94)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1435 24 218 - Rothkamm (2008)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
     pancreas exocrine   moderately
    Lymphoid/Immunelymph node   highly
     spleen   highly
    Reproductivefemale systemuteruscervix predominantly
     male systemtestis  highly
    Skin/Tegumentskin   moderately
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies ortholog to murine Hprt
    ortholog to rattus Hprt
    Homologene
    FAMILY
  • purine/pyrimidine phosphoribosyltransferase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • having a central role in the generation of purine nucleotides through the purine salvage pathway
  • catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate
  • HPRT1-mediated purine recycling has an important role in regulating early developmental programming of dopaminergic neurons (Ceballos-Picot 2009)
  • playing a role in neurodevelopment (Cristini 2010)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS behavioral
    PATHWAY
    metabolism nucleic , purine/pyrimidine
    signaling
    purine salvage pathway
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Mg2+ (2 ions per subunit)
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPRT1D , GHPR
    related resource Hypoxanthine Guanine Phosphoribosyltransferase 1, Lech-Nyhan Syndrome
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in bladder carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS