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FLASH GENE
Symbol NP contributors: SGE/npt - updated : 28-08-2009
HGNC name nucleoside phosphorylase
HGNC id 7892
Corresponding disease
NPHD nucleoside phosphorylase deficiency
Location 14q11.2      Physical location : -
Synonym name
  • inosine phosphorylase
  • purine nucleoside phosphorylase
    • Synonym symbol(s) PNP, PUNP, FLJ94043, FLJ97288, FLJ97312, MGC117396, MGC125915, MGC125916, PRO1837
    EC.number 2.4.2.1
    DNA
    TYPE functioning gene
    STRUCTURE 7.71 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1514 - 289 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     liver    
     pharynx   highly
    Endocrineparathyroid   highly
    Lymphoid/Immunethymus    
    Reproductivefemale systemuterus   
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    mono polymer homomer , trimer
    HOMOLOGY
    interspecies homolog to rattus Np (85.1pc)
    Homologene
    FAMILY
  • PNP/MTAP phosphorylase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • playing a key role in the purine salvage pathway, catalyzing the phosphorolysis of purine nucleosides
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    purine catabolism
    a component
  • SUPV3L1 dimer and NP trimer form a 330kDa heteropentamer capable of efficiently degrading dsRNA substrates in the presence of ATP, complex that may be the RNA-degrading complex in the mitochondria (Wang 2009)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHD
    related resource NPbase: Mutation registry for PNP deficiency
    Susceptibility
    Variant & Polymorphism SNP G51S polymorphism is associated with a faster rate of cognitive decline in A.D patients (Tumini 2007)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS