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FLASH GENE
Symbol HPRT1 contributors: mct/npt - updated : 15-07-2008
HGNC name hypoxanthine phosphoribosyltransferase 1
HGNC id 5157
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