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

PRPS1 Gene

protein-coding   GIFtS: 66
GCID: GC0XP106871

phosphoribosyl pyrophosphate synthetase 1

(Previous names: deafness, X-linked 2, perceptive, congenital )
(Previous symbol: DFN2)
 Explore 28 diseases affiliated with
PRPS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PRPS1    

Aliases
for PRPS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Phosphoribosyl Pyrophosphate Synthetase 11 2     EC 2.7.6.13 8
CMTX51 2 5     ARTS2
DFN21 2 5     PRSI2
DFNX11 2 5     Deafness 2, Perceptive, Congenital2
Deafness, X-Linked 2, Perceptive, Congenital1 2     DJ1070B1.2 (Phosphoribosyl Pyrophosphate Synthetase 1)2
Phosphoribosyl Pyrophosphate Synthase I2 3     Ribose-Phosphate Diphosphokinase 12
PPRibP2 3     Ribose-Phosphate Pyrophosphokinase 12
PRS-I2 3     

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


Summaries
for PRPS1 gene

(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:
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)

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




Genomic Views
for PRPS1 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
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 plasmid: PRPS1 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: Xq21.32-q24   Ensembl cytogenetic band:  Xq22.3   HGNC cytogenetic band: Xq21-q27

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

Proteins
for PRPS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 PDB 3D structures from and Proteopedia for PRPS1:
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals PRPS1 Lysate
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    ProSpec Recombinant Protein for PRPS1
    Uscn 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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    Uscn ELISAs and CLIAs for PRPS1

    Protein Domains /
    Families
    for PRPS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PRPS1 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB000842 Phosphoribosyl pyrophosphate synthetase

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


    Function
    for PRPS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		miRTarBase miRNAs that target PRPS1:
    hsa-mir-376a (MIRT001856)

    OriGene 3'-UTR Clone: PRPS1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRPS1
    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate PRPS1 (see all 14):
    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 plasmid: PRPS1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRPS1 (see all 3)
    OriGene siRNA: PRPS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRPS1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PRPS1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PRPS1 (see all 3)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): PRPS1 (NM_001204402)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRPS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRPS1 

    Cell Line
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    Search LifeMap BioReagents cell lines for PRPS1

    In Situ Assay
    Products:       
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    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 IMP17701896
    GO:0005524ATP binding IDA16939420
    GO:0016301kinase activity IEA--
    GO:0042803protein homodimerization activity IPI16939420


    PRPS1 for ontologies           About GeneDecksing


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

    Animal Models:
         1 MGI phenotypic allele for Prps1 (no phenotypes)

    PRPS1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PRPS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    2Apoptotic Pathways in Synovial Fibroblasts
    		Mitochondrial Apoptosis0.73
    		Cellular Apoptosis Pathway0.65
    35-Phosphoribose 1-diphosphate biosynthesis
    		5-Phosphoribose 1-diphosphate biosynthesis1.00
    4Nucleotide Metabolism
    		Nucleotide Metabolism1.00
    5Purine metabolism
    		Purine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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

    3         Kegg Pathways  (Kegg details for PRPS1):
        Pentose phosphate pathway
    Purine metabolism
    Metabolic pathways

    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



    Drugs & Compounds
    for PRPS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for PRPS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRPS1
    8/14 QIAGEN miScript miRNA Assays for microRNAs that regulate PRPS1 (see all 14):
    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 plasmid: PRPS1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRPS1 (see all 3)
    OriGene siRNA: PRPS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRPS1
    Clone
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    Primer
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    Additional cDNA 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):

    AU117327 BQ007562 BU735482 BM450718 AU125776 BM973128 BP343028 AL538282 
    BQ920820 BP372600 BQ439236 NM_002764 BQ436051 BQ876647 C00712 BM453289 
    BQ065609 AU124972 CF529109 CR622039 BE793270 CB128699 CB530051 BP345205 

    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

    Expression
    for PRPS1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTCCTGCTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PRPS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeForegutForegut Endoderm CellsEndoderm
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPS1

    Orthologs
    for PRPS1 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for PRPS1 gene from 10/35 species (see all 35)    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 F1NIP5_CHICK6
    		 Ribose-phosphate pyrophosphokinase
    		 95(a)
    		 1 → many
    		 4(1948779-1957667)
    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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PRS26
    AT2G445306
    (see all 5)    		 ribose-phosphate pyrophosphokinase 5
    (see all 5)    		 36(a)
    36(a)
    (see all 5)    		 possible ortholog
    possible ortholog
    (see all 5)    		 1(11681752-11684478)
    2(18383515-18386143)
    rice
    (Oryza sativa)    		 Liliopsida Os.231702 Transcribed sequence with weak similarity to protein more 72.06(n)    CB000087.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria prs6
    		 phosphoribosylpyrophosphate synthase
    		 47(a)
    		 possible ortholog
    		 Chromosome(1260151-1261098)


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

    Paralogs
    for PRPS1 gene

    (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


    Genomic Variants
    for PRPS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/231 NCBI SNPs in PRPS1 are shown (see all 231)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803387301,2
    		C,non-pathogenic106885637(+) GAGCCA/GGCTGT 3 P syn1 int10--------
    rs803387311,2
    		Cpathogenic106882531(+) GTGGAA/CATTGG 3 E D int1 mis10--------
    rs1801771511,2
    		Cpathogenic106882595(+) TCAATA/GACAAT 3 N D mis1 int10--------
    rs1801771521,2
    		Cpathogenic106882661(+) TTACTA/GCAGTC 3 T A int1 mis10--------
    rs803387321,2
    		Cpathogenic106884169(+) AAATAC/TGCTAT 3 T M mis1 int10--------
    rs803386751,2
    		Cpathogenic106884223(+) TTCTCA/CAATTC 3 Q P mis1 int10--------
    rs803386761,2
    		Cpathogenic106885645(+) TGTCCC/TAAAGT 3 P L int1 mis10--------
    rs1801771531,2
    		Cpathogenic106893174(+) GGTGAC/TTGACA 4 T I mis10--------
    rs1801771541,2
    		Cpathogenic106893221(+) ACAATA/GGAGAA 4 R G mis10--------
    rs1412396001,2
    		--106869735(+) AGAGAC/TGAGGT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for PRPS1 (106871654 - 106894256 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          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
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRPS1
    DNA2.0 Custom Variant and Variant Library Synthesis for PRPS1

    Disorders / Diseases
    for PRPS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PRPS1 for disorders           About GeneDecksing

    OMIM gene information: 311850   
    OMIM disorders: 300661  311070  301835  304500  
    UniProtKB/Swiss-Prot: PRPS1_HUMAN, P60891
  • Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity)
    • [MIM:300661]; also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production,
    gout and uric acid urolithiasis
  • Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5) [MIM:311070];
    • also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a 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
  • Defects in PRPS1 are the cause of ARTS syndrome (ARTS) [MIM:301835]; also known as fatal ataxia X-linked with
    • deafness and loss of vision. ARTS is 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
  • Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1) [MIM:304500]; also known as congenital
    • sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound
    sensorineural hearing loss in males. Females manifest mild to moderate hearing loss

    20/28 diseases for PRPS1 (see all 28):    About MalaCards
    charcot-marie-tooth disease    phosphoribosylpyrophosphate synthetase superactivity    charcot-marie-tooth disease, x-linked recessive, 5    deafness, x-linked 2
    charcot-marie-tooth neuropathy    charcot-marie-tooth neuropathy x    charcot-marie-tooth neuropathy x type 5    arts syndrome
    tooth disease    deafness, x-linked 1    purine nucleoside phosphorylase deficiency    lesch-nyhan syndrome
    nucleoside phosphorylase deficiency    optic atrophy polyneuropathy deafness    optic atrophy    hearing loss
    peripheral neuropathy    axonal neuropathy    neuropathy    gout

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

    1 Novoseek 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
    Arts Syndrome
    Phosphoribosylpyrophosphate Synthetase Superactivity
    Charcot-Marie-Tooth Neuropathy X Type 5


    Export disorders for PRPS1 gene to outside databases

    Publications
    for PRPS1 gene

    (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 50):
    (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)

    External Searches for PRPS1 gene

    (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)

    Genome Databases showing PRPS1 gene

    (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

    Other Databases showing PRPS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PRPS1 gene

    (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

    Intellectual Property
    for PRPS1 gene

    (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:
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