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FLASH GENE
Symbol PRPS1 contributors: mct/npt/pgu - updated : 27-01-2010
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
  • Synonym symbol(s) PPRPS, KPR1, KIAA0967, PRS I, PRSI, PPRibP, ARTS, CMTX5, DFN2, DFNX1,
    EC.number 2.7.6.1
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 22.60 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Physical map
    DKFZp686A17109 Xq22.3 hypothetical protein DKFZp686A17109 SERPINA7 Xq22.2 serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 FLJ33516 Xq22.3 hypothetical protein FLJ33516 FLJ10178 Xq22.3 hypothetical protein FLJ10178 RNF128 Xq22.3 ring finger protein 128 FLJ20298 Xq22.3 FLJ20298 protein LOC92129 Xq22.3 hypothetical protein BC007652 CLDN2 Xq22.3-23 claudin 2 ZCWCC2 Xq22.3 zinc finger, CW-type with coiled-coil domain 2 FLJ11016 Xq22.1-24 hypothetical protein FLJ11016 FLJ20130 Xq22.3 hypothetical protein FLJ20130 MGC35261 Xq22.3 hypothetical protein MGC35261 MYCL2 Xq22.1-q22.3 v-myc myelocytomatosis viral oncogene homolog 2 (avian) LOC392516 X similar to Keratin 18 KIAA1817 Xq22 KIAA1817 protein PRPS1 Xq22-q24 phosphoribosyl pyrophosphate synthetase 1 DSIPI Xq22.3 delta sleep inducing peptide, immunoreactor LOC392517 X similar to dJ820B18.1 (similar to nuclear cap binding protein) MID2 Xq22 midline 2 NOD13 Xq22.3 NOD13 pseudogene TEX13B Xq23 testis expressed sequence 13B MGC44287 Xq22.3 hypothetical protein MGC44287 PSMD10 Xq22.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 AUTL2 Xq22.1-q22.3 AUT-like 2, cysteine endopeptidase (S. cerevisiae) COL4A6 Xq22.3 collagen, type IV, alpha 6 COL4A5 Xq22.3 collagen, type IV, alpha 5 (Alport syndrome) IRS4 Xq22.3 insulin receptor substrate 4 LOC392519 X similar to Glyceraldehyde 3-phosphate dehydrogenase (GAPDH) GUCY2F Xq22 guanylate cyclase 2F, retinal NXT2 Xq22.3 nuclear transport factor 2-like export factor 2 LOC347537 Xq23 similar to mitofusin 1 isoform 1 KCNE1L Xq22.3 potassium voltage-gated channel, Isk-related family, member 1-like FACL4 Xq22.3-q23 fatty-acid-Coenzyme A ligase, long-chain 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2156 - 318 - 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,organelle,mitochondria,outer
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • localized to the mitochondrial outer membrane
  • 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
  • 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)
  • binds XIAP (X-linked inhibitor of apoptosis protein) upon entering the cytosol, thus promoting cell death
  • interacts with the E3 ligase SIAH1 (seven in absentia homolog 1) to induce ubiquitination and degradation of XIAP
  • pro-apoptotic tumor suppressor protein that functions as an antagonist of X-linked IAP (XIAP) to promote apoptosis
  • interacted with and ubiquitinated IAP antagonists such as DIABLO, HTRA2, and PRPS1
  • cell & other
    REGULATION
    Other enzymatic activity is regulated by cofactors, metabolites, and interacting proteins
    ASSOCIATED DISORDERS
    corresponding disease(s) PRPS1 , CMTX5 , ARTS , DFN2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscularneuropathy 
    target for drugs in prevention and treatment of peripheral neuropathy by antimetabolite therapy
    ANIMAL & CELL MODELS