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FLASH GENE
Symbol PRPS1 contributors: mct/npt/pgu - updated : 03-09-2019
HGNC name phosphoribosyl pyrophosphate synthetase 1
HGNC id 9462
Corresponding disease
ARTS ataxia, fatal, X-linked, with deafness and loss of vision
CMTX5 Charcot-Marie-Tooth disease, type 5
DFN2 deafness, neurosensorineural congenital
PRPS1 gout, with/without neurodevelopmental abnormalities (PRPS overexpression)
Location Xq22.3      Physical location : 106.871.653 - 106.894.255
Synonym name
  • dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
  • apoptosis-related protein in the TGF-B signaling pathway
  • deafness 2, perceptive, congenital
  • deafness, X-linked 2, perceptive, congenital
    • Synonym symbol(s) PPRPS, KPR1, KIAA0967, PRS I, PRSI, PPRibP, CMTX5, DFN2, DFNX1,
    EC.number 2.7.6.1
    DNA
    TYPE functioning gene
    STRUCTURE 22.60 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2156 - 318 - 1991 1650777
    4 - 1748 - 114 - 1991 1650777
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Hearing/Equilibriumearinner   
    Lymphoid/Immunespleen   highly
     thymus   highly
    Nervousbrain   highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • EP300 KIX-domain-specific-interacting protein
    • HOMOLOGY
    interspecies homolog to murine Prps1
    Homologene
    FAMILY
  • ribose phosphate pyrophosphokinase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text
    basic FUNCTION
  • playing an essential role for nucleoside biosynthesis and for de novo purine synthesis
  • catalyzes the reaction of ribose-5-phosphate (R5P) with ATP to yield AMP and PRPP (5-phosphoribosyl-1-pyrophosphate), which is necessary for the de novo and salvage pathways of purine-, pyrimidine-, and pyridine-nucleotide biosynthesis
  • may be playing a role in inner ear development and maintenance
  • its activity is normally tightly regulated in neuronal cells and that imbalances in nucleotide metabolism are particularly detrimental to neuronal function
  • serves as an adaptor to bridge SIAH1 to XIAP, targeting it for destruction
  • initiates caspase activation upstream of cytochrome C and DIABLO
  • is a key enzyme to produce the consensus precursor of nucleotide synthesis
  • key enzyme in de novo nucleotide synthesis and nucleotide salvage synthesis pathways that are critical for purine and pyrimidine biosynthesis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism nucleic
    signaling
    nucleotide
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • Mg2+
    • protein
  • interacting with EP300 (bound the KIX (kinase-inducible) domain of EP300 and may play a role in the regulation of DNA synthesis through interactions with PRPS1)
  • pro-apoptotic tumor suppressor protein that functions as an antagonist of X-linked IAP (XIAP) to promote apoptosis
    • cell & other
    REGULATION
    Other enzymatic activity is regulated by cofactors, metabolites, and interacting proteins
    ASSOCIATED DISORDERS
    corresponding disease(s) PRPS1 , CMTX5 , ARTS , DFN2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    inhibited neuroblastoma cell proliferation and tumor growth via disturbing DNA synthesis
    tumoral     --over  
    in colorectal cancer
    constitutional germinal mutation      
    causing retinal degeneration in females
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • increased PRPS1 activity, which is marked by S103 phosphorylation, is more important in promoting tumorigenesis and is a promising diagnostic indicator for Colorectal cancer
    • Therapy target
    SystemTypeDisorderPubmed
    neuromuscularneuropathy 
    target for drugs in prevention and treatment of peripheral neuropathy by antimetabolite therapy
    ANIMAL & CELL MODELS