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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRPS1 Gene

protein-coding   GIFtS: 67
GCID: GC0XP106871

Phosphoribosyl Pyrophosphate Synthetase 1

(Previous names: deafness, X-linked 2, perceptive, congenital)
(Previous symbol: DFN2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Phosphoribosyl Pyrophosphate Synthetase 11 2     CMTX52 5
DFN21 2 5     DFNX12 5
Deafness, X-Linked 2, Perceptive, Congenital1 2     PRS I1
Ribose-Phosphate Diphosphokinase 11 2     ARTS2
Phosphoribosyl Pyrophosphate Synthase I2 3     PRSI2
PPRibP2 3     Deafness 2, Perceptive, Congenital2
PRS-I2 3     DJ1070B1.2 (Phosphoribosyl Pyrophosphate Synthetase 1)2
EC 2.7.6.13 8     Ribose-Phosphate Pyrophosphokinase 12

External Ids:    HGNC: 94621   Entrez Gene: 56312   Ensembl: ENSG000001472247   OMIM: 3118505   UniProtKB: P608913   

Export aliases for PRPS1 gene to outside databases

Previous GC identifers: GC0XP102183 GC0XP103790 GC0XP104904 GC0XP105643 GC0XP106677 GC0XP096496


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRPS1 Gene:
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to
5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects
in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease
X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for PRPS1 Gene: 
PRPS1 (phosphoribosyl pyrophosphate synthetase 1) is a protein-coding gene. Diseases associated with PRPS1 include phosphoribosylpyrophosphate synthetase superactivity, and arts syndrome, and among its related super-pathways are Metabolic pathways and Mitochondrial Apoptosis. GO annotations related to this gene include protein homodimerization activity and kinase activity. An important paralog of this gene is PRPSAP1.

UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891
Function: Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRPS1 gene promoter:
         GR   Sox5   p53   FOXD1   Nkx2-5   FOXO3b   POU2F1   POU2F1a   FOXO4   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRPS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRPS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRPS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq22.3   Ensembl cytogenetic band:  Xq22.3   HGNC cytogenetic band: Xq22.3

PRPS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRPS1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP106871:  view genomic region     (about GC identifiers)

Start:
106,871,654 bp from pter      End:
106,894,256 bp from pter
Size:
22,603 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891 (See protein sequence)
Recommended Name: Ribose-phosphate pyrophosphokinase 1  
Size: 318 amino acids; 34834 Da
Cofactor: Magnesium
Subunit: Homodimer. The active form is probably a hexamer composed of 3 homodimers
6/7 PDB 3D structures from and Proteopedia for PRPS1 (see all 7):
2H06 (3D)        2H07 (3D)        2H08 (3D)        2HCR (3D)        3EFH (3D)        3S5J (3D)    
Secondary accessions: B1ALA8 D3DUX6 P09329

Explore the universe of human proteins at neXtProt for PRPS1: NX_P60891

Explore proteomics data for PRPS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P60891

  • 4/24 DME Specific Peptides for PRPS1 (P60891) (see all 24)
     NDNLMEL  GLELGKV  QIQGFFD  KLVANML 

    PRPS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PRPS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001191331.1  NP_002755.1  

    ENSEMBL proteins: 
     ENSP00000361512   ENSP00000361496   ENSP00000361495   ENSP00000443185   ENSP00000361505  
    Reactome Protein details: P60891
    Human Recombinant Protein Products for PRPS1: 
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for PRPS1
    Cloud-Clone Corp. Proteins for PRPS1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    PRPS1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for PRPS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000842 PRib_PP_synth_CS
     IPR005946 Rib-P_diPkinase
     IPR000836 PRibTrfase_dom

    Graphical View of Domain Structure for InterPro Entry P60891

    ProtoNet protein and cluster: P60891

    1 Blocks protein domain: IPB000842 Phosphoribosyl pyrophosphate synthetase

    UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891
    Similarity: Belongs to the ribose-phosphate pyrophosphokinase family


    PRPS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRPS1_HUMAN, P60891
    Function: Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis
    Catalytic activity: ATP + D-ribose 5-phosphate = AMP + 5-phospho-alpha-D-ribose 1-diphosphate
    Enzyme regulation: Activated by magnesium and inorganic phosphate

         Genatlas biochemistry entry for PRPS1:
    phosphoribosyl pyrophosphate synthetase 1

         Enzyme Number (IUBMB): EC 2.7.6.11 2

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004749ribose phosphate diphosphokinase activity IMP12847698
    GO:0005524ATP binding IDA16939420
    GO:0016301kinase activity IEA--
    GO:0042803protein homodimerization activity IPI16939420
         
    PRPS1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for PRPS1:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Small cells 

         1 MGI phenotypic allele for Prps1 (no phenotypes)

    PRPS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PRPS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRPS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRPS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRPS1 

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    hsa-miR-320a hsa-miR-449c* hsa-miR-320d hsa-miR-3684 hsa-miR-3926 hsa-miR-320b hsa-miR-124 hsa-miR-9*
    SwitchGear 3'UTR luciferase reporter plasmidPRPS1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PRPS1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Cellular Apoptosis Pathway0.85
    3Carbon metabolism
    Carbon metabolism0.37
    Biosynthesis of amino acids0.37
    45-Phosphoribose 1-diphosphate biosynthesis
    5-Phosphoribose 1-diphosphate biosynthesis0.67
    5MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PRPS1
        Mitochondrial Apoptosis
    Cellular Apoptosis Pathway

    1 BioSystems Pathway for PRPS1
        Nucleotide Metabolism

    3        Reactome Pathways for PRPS1
        5-Phosphoribose 1-diphosphate biosynthesis
    Metabolism of carbohydrates
    Metabolism

    1 PharmGKB Pathway for PRPS1
        Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    5         Kegg Pathways  (Kegg details for PRPS1):
        Pentose phosphate pathway
    Purine metabolism
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891
    Pathway: Metabolic intermediate biosynthesis; 5-phospho-alpha-D-ribose 1-diphosphate biosynthesis;
    5-phospho-alpha-D-ribose 1-diphosphate from D-ribose 5-phosphate (route I): step 1/1


    PRPS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRPS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/39 Interacting proteins for PRPS1 (P608913 ENSP000003615124) via UniProtKB, MINT, STRING, and/or I2D (see all 39)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUMO4Q6EEV63, ENSP000003186354I2D: score=1 STRING: ENSP00000318635
    PRPSAP1Q145583, ENSP000004146244I2D: score=5 STRING: ENSP00000414624
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    SPG21Q9NZD83, ENSP000002045664I2D: score=4 STRING: ENSP00000204566
    GORASP2Q9H8Y83, ENSP000002341604I2D: score=4 STRING: ENSP00000234160
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:00060155-phosphoribose 1-diphosphate biosynthetic process TAS--
    GO:0006144purine nucleobase metabolic process IMP8253776
    GO:0006164purine nucleotide biosynthetic process IMP12847698
    GO:0006221pyrimidine nucleotide biosynthetic process NAS17701896

    PRPS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PRPS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRPS1

    9 HMDB Compounds for PRPS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    D-Ribose 5-phosphateD-Ribose 5-phosphate (see all 11)3615-55-2--
    D-Ribulose 5-phosphateD-Ribulose 5-phosphate (see all 5)4151-19-3--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Phosphoribosyl pyrophosphate5-Phospho-a-D-ribose-1-diphosphate (see all 37)7540-64-9--
    Phosphoribosyl-ATPN1-(5-Phospho-D-ribosyl)-ATP (see all 4)----
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    4 Novoseek inferred chemical compound relationships for PRPS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prpp 94.9 16 1650777 (2), 10066814 (2), 17701896 (2), 8253776 (1) (see all 8)
    purine 75.8 2 10066814 (1), 17701896 (1)
    uric acid 70.2 4 12847698 (1), 17701896 (1), 17322061 (1)
    histidine 35.7 1 12847698 (1)

    Search CenterWatch for drugs/clinical trials and news about PRPS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRPS1 gene (2 alternative transcripts): 
    NM_001204402.1  NM_002764.3  

    Unigene Cluster for PRPS1:

    Phosphoribosyl pyrophosphate synthetase 1
    Hs.56  [show with all ESTs]
    Unigene Representative Sequence: NM_002764
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372435(uc004ene.4 uc011msj.2 uc010npg.3) ENST00000372419
    ENST00000372418 ENST00000543248 ENST00000372428
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-320a hsa-miR-449c* hsa-miR-320d hsa-miR-3684 hsa-miR-3926 hsa-miR-320b hsa-miR-124 hsa-miR-9*
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    Additional mRNA sequence: 

    AK223169.1 AK297968.1 AK307748.1 AK312706.1 AK316467.1 BC001605.1 D00860.1 X15331.1 

    7 DOTS entries:

    DT.114016  DT.100823782  DT.95204379  DT.95204419  DT.91772293  DT.95204420  DT.101957008 

    24/309 AceView cDNA sequences (see all 309):

    BQ436051 BQ899012 BQ058078 BM564813 CB128699 BQ431845 AU124740 AL538282 
    BM458971 BQ007562 CD366668 BQ439236 BQ012108 BM973128 BE782077 BC001605 
    BP343101 BM723304 BQ226133 BP345106 AA651884 CA423515 BM450718 AU124972 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PRPS1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
    SP1:                                -           -                                 
    SP2:                          -     -           -                                 
    SP3:                          -     -           -                                 
    SP4:                                -                                             
    SP5:                                                                              


    ECgene alternative splicing isoforms for PRPS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRPS1 expression in normal human tissues (normalized intensities)      PRPS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCCTGCTA
    PRPS1 Expression
    About this image


    PRPS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Inner Cell Mass Cells Inner Cell Mass
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Cells Epiblast
     
     Blood (Hematopoietic System)
             bone marrow cd34+   
     
     Thymus (Hematopoietic System)

    See PRPS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRPS1

    SOURCE GeneReport for Unigene cluster: Hs.56
        SABiosciences Expression via Pathway-Focused PCR Array including PRPS1: 
              Glucose Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PRPS1 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prps11 , 5 phosphoribosyl pyrophosphate synthetase 11, 5 92.45(n)1
    100(a)1
      X (61.35 cM)5
    191391  NM_021463.41  NP_067438.11 
     1404566135 
    chicken
    (Gallus gallus)
    Aves PRPS16
    Ribose-phosphate pyrophosphokinase
    95(a)
    1 → many
    4(1950342-1960665)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC759872 similar to phosphoribosyl pyrophosphate synthetase more 79.42(n)    BC061401.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.28962 Danio rerio mRNA similar to phosphoribosyl pyrophosphate more 80.64(n)    BC045301.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG67673 ribose-phosphate pyrophosphokinase 88(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea R151.2b3   -- 81(a)
    (best of 3)
      III(7284624-7286460)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRS4(YBL068W)4
    PRS31
    5-phospho-ribosyl-1(alpha)-pyrophosphate synthetase, more4
    Prs3p1
    58.41(n)1
    60.95(a)1
      2(92414-93394)4
    8563751  NP_011852.11  8522114 
     NP_009485.24 
    rice
    (Oryza sativa)
    Liliopsida Os.231702 Transcribed sequence with weak similarity to protein more 72.06(n)    CB000087.1 


    ENSEMBL Gene Tree for PRPS1 (if available)
    TreeFam Gene Tree for PRPS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRPS1 gene
    PRPSAP12  PRPS22  PRPSAP22  PRPS1L12  
    4 SIMAP similar genes for PRPS1 using alignment to 4 protein entries:     PRPS1_HUMAN (see all proteins):
    PRPS1L1    PRPS2    PRPSAP2    PRPSAP1

    PRPS1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PRPS1
    PGOHUM00000241005 PGOHUM00000236770


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/304 SNPs in PRPS1 are shown (see all 304)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365954
    A colorectal cancer sample4--see VAR_0365952 H D mis40--------
    VAR_0160454
    Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)4--see VAR_0160452 L I mis40--------
    VAR_0041634
    Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)4--see VAR_0041632 N S mis40--------
    VAR_0635244
    Deafness, X-linked, 1 (DFNX1)4--see VAR_0635242 I T mis40--------
    VAR_0635224
    Deafness, X-linked, 1 (DFNX1)4--see VAR_0635222 D N mis40--------
    VAR_0369424
    Charcot-Marie-Tooth disease X-linked recessive 5 (CMTX5)4--see VAR_0369422 M T mis40--------
    VAR_0160464
    Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)4--see VAR_0160462 A V mis40--------
    VAR_0635254
    Deafness, X-linked, 1 (DFNX1)4--see VAR_0635252 G R mis40--------
    VAR_0160444
    Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)4--see VAR_0160442 D H mis40--------
    VAR_0369444
    ARTS syndrome (ARTS)4--see VAR_0369442 L P mis40--------

    HapMap Linkage Disequilibrium report for PRPS1 (106871654 - 106894256 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for PRPS1: --

    Human Gene Mutation Database (HGMD): PRPS1

    Locus Specific Mutation Databases (LSDB): PRPS1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PRPS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PRPS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 311850   
    OMIM disorders: 300661  311070  301835  304500  
    UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891
  • Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]: Familial
    disorder characterized by excessive purine production, gout and uric acid urolithiasis. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Charcot-Marie-Tooth disease X-linked recessive 5 (CMTX5) [MIM:311070]: Form of Charcot-Marie-Tooth
    disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is
    classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs)
    (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies
    characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • ARTS syndrome (ARTS) [MIM:301835]: A disorder characterized by mental retardation, early-onset hypotonia,
    ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections,
    especially of the upper respiratory tract, can result in early death. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Deafness, X-linked, 1 (DFNX1) [MIM:304500]: A form of deafness characterized by progressive,
    severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/29 diseases for PRPS1 (see all 29):    About MalaCards
    phosphoribosylpyrophosphate synthetase superactivity    arts syndrome    optic atrophy polyneuropathy deafness    dfnx1 nonsyndromic hearing loss and deafness
    charcot-marie-tooth neuropathy x type 5    prps1-related charcot-marie-tooth neuropathy x type 5    charcot-marie-tooth disease, x-linked recessive, 5    prps1-related disorders
    deafness, x-linked 1    deafness, x-linked 2    charcot-marie-tooth neuropathy x    gout
    purine nucleoside phosphorylase deficiency    optic atrophy    lesch-nyhan syndrome    charcot-marie-tooth neuropathy
    axonal neuropathy    hyperuricemia    charcot-marie-tooth disease    tooth disease

    4 diseases from the University of Copenhagen DISEASES database for PRPS1:
    Gout     Lesch-Nyhan syndrome     Hyperuricemia     Sensorineural hearing loss

    PRPS1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PRPS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gout 75.8 1 17701896 (1)

    Genatlas disease: PRPS1
    gout,with/without neurodevelopmental abnormalities (PRPS over expression)

    GeneTests: PRPS1
    GeneReviews: PRPS1

    Export disorders for PRPS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRPS1 gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with PRPS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. (PubMed id 20021999)1, 2, 3 Liu X....Yuan H. (2010)
    2. Complete nucleotide sequence of human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) cDNA and a comparison with human and rat PRPS gene families. (PubMed id 1650777)1, 2, 9 Sonoda T.... Tatibana M. (1991)
    3. Arts syndrome is caused by loss-of-function mutations in PRPS1. (PubMed id 17701896)1, 2, 9 de Brouwer A.P.M.... van Bokhoven H. (2007)
    4. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). (PubMed id 17701900)1, 2, 9 Kim H.-J.... Kim J.-W. (2007)
    5. Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site. (PubMed id 16939420)1, 2 Li S.... Ding J. (2007)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The genetic and functional basis of purine nucleotide feedback- resistant phosphoribosylpyrophosphate synthetase superactivity. (PubMed id 7593598)1, 2 Becker M.A.... Switzer R.L. (1995)
    8. Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms. (PubMed id 1314091)1, 2 Ishizuka T.... Tatibana M. (1992)
    9. Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes. (PubMed id 1962753)1, 3 Becker M.A....Roessler B.J. (1990)
    10. Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA. (PubMed id 2155397)1, 2 Roessler B.J.... Palella T.D. (1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5631 HGNC: 9462 AceView: PRPS1 Ensembl:ENSG00000147224 euGenes: HUgn5631
    ECgene: PRPS1 Kegg: 5631 H-InvDB: PRPS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRPS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRPS1 gene:
    Search GeneIP for patents involving PRPS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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