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PRPS1L1 Gene

protein-coding   GIFtS: 58
GCID: GC07M018066

Phosphoribosyl Pyrophosphate Synthetase 1-Like 1


(Previous symbol: PRPSL)
  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)
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Aliases
Phosphoribosyl Pyrophosphate Synthetase 1-Like 11 2     EC 2.7.6.13 8
PRPSL1 2 3     PRPS12
PRPS32 3 5     Phosphoribosylpyrophosphate Synthetase Subunit III2
Phosphoribosyl Pyrophosphate Synthase 1-Like 12 3     Ribose-Phosphate Diphosphokinase Catalytic Chain III2
Phosphoribosyl Pyrophosphate Synthase III2 3     Ribose-Phosphate Pyrophosphokinase 32
PRS-III2 3     Ribose-Phosphate Pyrophosphokinase III2
PRPS1-Like 12 3     

External Ids:    HGNC: 94631   Entrez Gene: 2218232   Ensembl: ENSG000002299377   OMIM: 6115665   UniProtKB: P211083   

Export aliases for PRPS1L1 gene to outside databases

Previous GC identifers: GC07U990077 GC07M017810 GC07M017839 GC07M018032


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PRPS1L1 Gene:
This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to
the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2.
These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In
vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA
initiates exclusively at a non-AUG (ACG) codon. (provided by RefSeq, Jul 2008)

GeneCards Summary for PRPS1L1 Gene:
PRPS1L1 (phosphoribosyl pyrophosphate synthetase 1-like 1) is a protein-coding gene. Diseases associated with PRPS1L1 include lesch-nyhan syndrome, and saethre-chotzen syndrome. GO annotations related to this gene include protein homodimerization activity and kinase activity. An important paralog of this gene is PRPSAP1.

UniProtKB/Swiss-Prot: PRPS3_HUMAN, P21108
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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRPS1L1 gene promoter:
         Brachyury   ATF-2   CUTL1   STAT5A   HNF-3beta   Cdc5   POU2F1   POU2F1a   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRPS1L1 promoter sequence
   Search Chromatin IP Primers for PRPS1L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRPS1L1


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

Entrez Gene cytogenetic band: 7p21.1   Ensembl cytogenetic band:  7p21.1   HGNC cytogenetic band: 7p21.1

PRPS1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRPS1L1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M018066:  view genomic region     (about GC identifiers)

Start:
18,066,397 bp from pter      End:
18,067,486 bp from pter
Size:
1,090 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 18,119,717-18,120,801     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PRPS3_HUMAN, P21108 (See protein sequence)
Recommended Name: Ribose-phosphate pyrophosphokinase 3  
Size: 318 amino acids; 34839 Da
Cofactor: Magnesium
Subunit: Homodimer. The active form is probably a hexamer composed of 3 homodimers (By similarity)
Caution: According to PubMed:2168892, this sequence initiates from a non-AUG codon; N-terminal ACG codon did serve
as a start codon
Secondary accessions: Q6P5P6

Explore the universe of human proteins at neXtProt for PRPS1L1: NX_P21108

Explore proteomics data for PRPS1L1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys5, Lys18, Lys29, Lys194
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PRPS1L1 (P21108) (see all 22)
     GLELGKV  QIQGFFD  KLVANML  LMELLIM 


    See PRPS1L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_787082.1  
    ENSEMBL proteins: 
     ENSP00000424595  
    Reactome Protein details: P21108

    PRPS1L1 Human Recombinant Protein Products:

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

    Graphical View of Domain Structure for InterPro Entry P21108

    ProtoNet protein and cluster: P21108

    1 Blocks protein domain: IPB000842 Phosphoribosyl pyrophosphate synthetase

    UniProtKB/Swiss-Prot: PRPS3_HUMAN, P21108
    Similarity: Belongs to the ribose-phosphate pyrophosphokinase family


    PRPS1L1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PRPS3_HUMAN, P21108
    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 PRPS1L1:
    phosphoribosyl pyrophosphate synthetase 1-like 1

         Enzyme Number (IUBMB): EC 2.7.6.11 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004749ribose phosphate diphosphokinase activity NAS2168892
    GO:0005524ATP binding ISS--
    GO:0016301kinase activity IEA--
    GO:0042803protein homodimerization activity ISS--
         
    PRPS1L1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PRPS1L1:
     Increased viability after born  Paclitaxel antagonistic effect 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRPS1L1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRPS1L1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRPS1L1

    miRNA
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    miRTarBase miRNAs that target PRPS1L1:
    hsa-mir-15b-5p (MIRT046478), hsa-mir-124-3p (MIRT022908), hsa-mir-484 (MIRT042233), hsa-mir-376a-5p (MIRT001856), hsa-let-7b-5p (MIRT032397)

    Block miRNA regulation of human, mouse, rat PRPS1L1 using miScript Target Protectors
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPS1L1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    PRPS1L1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PRPS1L1 About    
    See pathways by source

    SuperPathContained pathways About
    1Pentose phosphate pathway (KEGG)
    5-Phosphoribose 1-diphosphate biosynthesis0.00
    PRPP biosynthesis0.00
    Pentose phosphate pathway
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    4MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    5Purine metabolism (KEGG)
    Purine metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PRPS1L1
        Mitochondrial Apoptosis
    Cellular Apoptosis Pathway

    1 BioSystems Pathway for PRPS1L1
        PRPP biosynthesis

    1 Reactome Pathway for PRPS1L1
        5-Phosphoribose 1-diphosphate biosynthesis


    5 Kegg Pathways  (Kegg details for PRPS1L1):
        Pentose phosphate pathway
    Purine metabolism
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: PRPS3_HUMAN, P21108
    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


    PRPS1L1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PRPS1L1: 

              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PRPS1L1

    Selected Interacting proteins for PRPS1L1 (P211083) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATG101Q9BSB43I2D: score=1 
    DDA1Q9BW613I2D: score=1 
    GBASO753233I2D: score=1 
    PIK3C2AO004433I2D: score=1 
    PRKAG1P546193I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00060155-phosphoribose 1-diphosphate biosynthetic process IEA--
    GO:0008584male gonad development ----
    GO:0009116nucleoside metabolic process ----
    GO:0009156ribonucleoside monophosphate biosynthetic process IEA--
    GO:0009165nucleotide biosynthetic process IEA--

    PRPS1L1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PRPS1L1 (PRPS3)

    6 HMDB Compounds for PRPS1L1    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--

    1 Novoseek inferred chemical compound relationship for PRPS1L1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prpp 92.2 6 17701900 (2), 1962753 (2), 2168892 (1), 1314091 (1)



    PRPS1L1 for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PRPS1L1 gene: 
    NM_175886.2  

    Unigene Cluster for PRPS1L1:

    Phosphoribosyl pyrophosphate synthetase 1-like 1
    Hs.169284  [show with all ESTs]
    Unigene Representative Sequence: NM_175886
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000506618(uc003stz.3)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat PRPS1L1
      QuantiFast Probe-based Assays in human, mouse, rat PRPS1L1

    Additional mRNA sequence: 

    BC005309.1 BC062797.1 M57423.1 

    1 DOTS entry:

    DT.40119884 

    10 AceView cDNA sequences:

    NM_175886 BI830385 M57423 BX281962 BQ428750 BI561282 BC062797 BC005309 
    AW072461 BP368905 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRPS1L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCTTTATA
    PRPS1L1 Expression
    About this image


    PRPS1L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Testis (Reproductive System)
             Mature Sertoli Cells Seminiferous Tubules
    PRPS1L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRPS1L1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.169284

    UniProtKB/Swiss-Prot: PRPS3_HUMAN, P21108
    Tissue specificity: Testis

        Pathway & Disease-focused RT2 Profiler PCR Array including PRPS1L1: 
              Glucose Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRPS1L1

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PRPS1L1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prps1l11 , 5 phosphoribosyl pyrophosphate synthetase 1-like 11, 5 87.42(n)1
    91.51(a)1
      12 (15.64 cM)5
    754561  NM_029294.21  NP_083570.11 
     349847615 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    91(a)
    1 → many
    4(1950342-1960665) ENSGALG00000004908
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    81(a)
    1 → many
    GL343686.1(60347-61901)
    zebrafish
    (Danio rerio)
    Actinopterygii prps1b6
    prps1a6
    phosphoribosyl pyrophosphate synthetase 1A
    93(a)
    91(a)
    many ↔ many
    many ↔ many
    14(12335034-12364816) ENSDARG00000037506
    5(24805479-24816595) ENSDARG00000015524
    fruit fly
    (Drosophila melanogaster)
    Insecta CG67676
    --
    70(a)
    1 → many
    3L(9676679-9689800)
    worm
    (Caenorhabditis elegans)
    Secernentea R151.26
    Protein R151.2, isoform d
    57(a)
    1 → many
    III(7209967-7215111) WBGene00020107
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRS26
    PRS46
    (see all 3)
    5-phospho-ribosyl-1(alpha)-pyrophosphate synthetas...
    5-phospho-ribosyl-1(alpha)-pyrophosphate synthetas...
    (see all 3)
    60(a)
    60(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    V(358105-359061) YER099C
    II(92414-93394) YBL068W


    ENSEMBL Gene Tree for PRPS1L1 (if available)
    TreeFam Gene Tree for PRPS1L1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRPS1L1 gene
    PRPSAP12  PRPS12  PRPS22  PRPSAP22  
    4 SIMAP similar genes for PRPS1L1 using alignment to 1 protein entry:     PRPS3_HUMAN:
    PRPS1    PRPS2    PRPSAP2    PRPSAP1

    PRPS1L1 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRPS1L1 (see all 130)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1143420191,2
    F--18065902(+) TCCCAA/GTGGCT 1 -- int11Minor allele frequency- G:0.01WA 118
    rs1503096151,2
    --18066034(+) GTGGGG/TGTTTG 1 -- int10--------
    rs1380828671,2
    --18066136(+) AAACAC/GCTCTA 1 -- int10--------
    rs1164123571,2
    F--18066194(+) TTAAAG/ACTGCT 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1843461231,2
    --18066198(+) AGCTGC/TTGGGC 1 -- int10--------
    rs1491151391,2
    C--18066261(+) TGATTA/GTTCTT 1 -- int10--------
    rs1158475131,2
    F--18066343(+) AAGCTG/AGATCT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs69783391,2
    C,H--18066375(+) CCTAAG/AAAAAA 1 -- int14Minor allele frequency- A:0.00NS EA 388
    rs1887395221,2
    C--18066419(+) TTATTG/TTAAAA 1 -- ut310--------
    rs3676049061,2
    C--18066449(+) TTCTGC/TTATAA 2 * syn10--------

    HapMap Linkage Disequilibrium report for PRPS1L1 (18066397 - 18067486 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PRPS1L1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv887808CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRPS1L1
    DNA2.0 Custom Variant and Variant Library Synthesis for PRPS1L1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611566    OMIM disorders: --

    9 diseases for PRPS1L1:    
    About MalaCards
    lesch-nyhan syndrome    saethre-chotzen syndrome    hyperuricemia    gout
    brachydactyly    peripheral neuropathy    pneumonia    neuropathy
    tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for PRPS1L1:
    Gout     Hyperuricemia

    PRPS1L1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PRPS1L1

    Export disorders for PRPS1L1 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)
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    PubMed articles for PRPS1L1 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with PRPS1L1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human testis-specific mRNA for phosphoribosylpyrophosphate synthetase that initiates from a non-AUG codon. (PubMed id 2168892)1, 2, 3, 9 Taira M.... Tatibana M. (J. Biol. Chem. 1990)
    2. Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms. (PubMed id 1314091)1, 9 Ishizuka T.... Tatibana M. (Biochim. Biophys. Acta 1992)
    3. Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. (PubMed id 23969696)1 Sabater-Lleal M....O'Donnell C.J. (Circulation 2013)
    4. Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3. (PubMed id 21734401)1 Ali G....Leal S.M. (Hum. Hered. 2011)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    8. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (PLoS ONE 2010)
    9. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    10. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 221823 HGNC: 9463 AceView: PRPS1L1 Ensembl:ENSG00000229937 euGenes: HUgn221823
    ECgene: PRPS1L1 Kegg: 221823 H-InvDB: PRPS1L1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PRPS1L1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PRPS1L1 gene:
    Search GeneIP for patents involving PRPS1L1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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