Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



RPIA Gene

protein-coding   GIFtS: 62
GCID: GC02P088991

Ribose 5-Phosphate Isomerase A

  See RPIA-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

TryGeneCards Plus

Aliases
Ribose 5-Phosphate Isomerase A1 2     phosphoriboisomerase2
RPI2 3 5     Ribose-5-Phosphate Isomerase2
Ribose 5-Phosphate Epimerase1 2     Phosphoriboisomerase3
EC 5.3.1.63 8     

External Ids:    HGNC: 102971   Entrez Gene: 229342   Ensembl: ENSG000001535747   OMIM: 1804305   UniProtKB: P492473   

Export aliases for RPIA gene to outside databases

Previous GC identifers: GC02P088545 GC02P089284 GC02P088876 GC02P088893 GC02P088830 GC02P087913


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

TryGeneCards Plus

Entrez Gene summary for RPIA Gene:
The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between
ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in
most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause
ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. (provided by RefSeq, Mar 2010)

GeneCards Summary for RPIA Gene:
RPIA (ribose 5-phosphate isomerase A) is a protein-coding gene. Diseases associated with RPIA include ribose 5-phosphate isomerase deficiency, and necrotizing sialometaplasia. GO annotations related to this gene include ribose-5-phosphate isomerase activity and monosaccharide binding.




(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPIA gene promoter:
         N-Myc   GR   AML1a   NCX/Ncx   MyoD   GR-alpha   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPIA promoter sequence
   Search Chromatin IP Primers for RPIA

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


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

Entrez Gene cytogenetic band: 2p11.2   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P088991:  view genomic region     (about GC identifiers)

Start:
88,991,162 bp from pter      End:
89,050,452 bp from pter
Size:
59,291 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: RPIA_HUMAN, P49247 (See protein sequence)
Recommended Name: Ribose-5-phosphate isomerase  
Size: 311 amino acids; 33269 Da
Sequence caution: Sequence=AAK95569.1; Type=Frameshift; Positions=24;
Secondary accessions: Q541P9 Q96BJ6

Explore the universe of human proteins at neXtProt for RPIA: NX_P49247

Explore proteomics data for RPIA at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RPIA (P49247) (see all 6)
     VVTDNGN  DGADEVD  GVVDTGLF  KAGPVVTD 


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

    REFSEQ proteins: NP_653164.2  
    ENSEMBL proteins: 
     ENSP00000283646  
    Reactome Protein details: P49247

    RPIA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for RPIA
    OriGene Protein Over-expression Lysate for RPIA
    OriGene Custom MassSpec
    OriGene Custom Protein Services for RPIA
    GenScript Custom Purified and Recombinant Proteins Services for RPIA
    Novus Biologicals RPIA Proteins
    Novus Biologicals RPIA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for RPIA
    Cloud-Clone Corp. Proteins for RPIA

     
    Search eBioscience for Proteins for RPIA 

     
    antibodies-online proteins for RPIA (68 products) 

     
    antibodies-online peptides for RPIA

    RPIA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for RPIA
    Novus Biologicals RPIA Antibodies
    Abcam antibodies for RPIA
    Cloud-Clone Corp. Antibodies for RPIA
    Search ThermoFisher Antibodies for RPIA
    LSBio Antibodies in human, mouse, rat for RPIA
    antibodies-online antibodies for RPIA (21 products) 

    RPIA Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RPIA
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RPIA
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RPIA
    Cloud-Clone Corp. CLIAs for RPIA
    Search eBioscience for ELISAs for RPIA 
    antibodies-online kits for RPIA (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR004788 Ribose5P_isomerase_typA
     IPR020672 Ribose5P_isomerase_typA_subgr

    Graphical View of Domain Structure for InterPro Entry P49247

    ProtoNet protein and cluster: P49247

    UniProtKB/Swiss-Prot: RPIA_HUMAN, P49247
    Similarity: Belongs to the ribose 5-phosphate isomerase family


    Find genes that share domains with RPIA           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPIA_HUMAN, P49247
    Catalytic activity: D-ribose 5-phosphate = D-ribulose 5-phosphate

         Enzyme Number (IUBMB): EC 5.3.1.61 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004751ribose-5-phosphate isomerase activity NAS7758956
    GO:0030246carbohydrate binding ----
    GO:0048029monosaccharide binding IEA--
         
    Find genes that share ontologies with RPIA           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for RPIA:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPIA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RPIA

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target RPIA:
    hsa-mir-124-3p (MIRT022847), hsa-mir-191-5p (MIRT045816), hsa-mir-30e-5p (MIRT044134), hsa-mir-373-3p (MIRT002559), hsa-mir-34a-5p (MIRT025226), hsa-mir-148b-3p (MIRT019459), hsa-let-7b-5p (MIRT001851)

    Block miRNA regulation of human, mouse, rat RPIA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RPIA (see all 16):
    hsa-miR-3910 hsa-miR-124 hsa-miR-633 hsa-miR-641 hsa-miR-23a hsa-miR-506 hsa-miR-548c-3p hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidRPIA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RPIA
    Predesigned siRNA for gene silencing in human, mouse, rat RPIA

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

    Clone
    Products:
         
    OriGene clones in human, mouse for RPIA (see all 8)
    OriGene ORF clones in mouse, rat for RPIA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RPIA (NM_144563)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPIA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPIA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RPIA
    Browse ESI BIO Cell Lines and PureStem Progenitors for RPIA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPIA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    chloroplast2
    extracellular2
    nucleus2
    plasma membrane2
    cytoskeleton1
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0043231intracellular membrane-bounded organelle IEA--

    Find genes that share ontologies with RPIA           About GenesLikeMe


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for RPIA About    
    See pathways by source

    SuperPathContained pathways About
    1Pentose phosphate pathway (KEGG)
    pentose phosphate pathway (non-oxidative branch)0.00
    pentose phosphate pathway0.00
    Pentose phosphate pathway
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Pentose Phosphate Pathway (WikiPathways)
    Pentose Phosphate Pathway
    Pentose phosphate pathway (hexose monophosphate shunt)0.00
    4Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38
    5MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45


    Find genes that share SuperPaths with RPIA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for RPIA
        pentose phosphate pathway
    Pentose Phosphate Pathway
    pentose phosphate pathway (non-oxidative branch)

    1 Reactome Pathway for RPIA
        Pentose phosphate pathway (hexose monophosphate shunt)


    4 Kegg Pathways  (Kegg details for RPIA):
        Pentose phosphate pathway
    Metabolic pathways
    Carbon metabolism
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: RPIA_HUMAN, P49247
    Pathway: Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate
    (non-oxidative stage): step 1/1

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

              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for RPIA

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

    Selected Interacting proteins for RPIA (P492472, 3 ENSP000002836464) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FXR2P511162, 3, ENSP000002501134MINT-67980 I2D: score=5 STRING: ENSP00000250113
    LNX1Q8TBB12, 3, ENSP000002639254MINT-66568 I2D: score=5 STRING: ENSP00000263925
    VTA1Q9NP792, 3, ENSP000003566024MINT-66686 I2D: score=5 STRING: ENSP00000356602
    STK16O757162, 3, ENSP000003799644MINT-67480 I2D: score=4 STRING: ENSP00000379964
    NIF3L1Q9GZT82, 3, ENSP000003863944MINT-66999 I2D: score=5 STRING: ENSP00000386394
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006098pentose-phosphate shunt TAS--
    GO:0009052pentose-phosphate shunt, non-oxidative branch IEA--
    GO:0019693ribose phosphate metabolic process IEA--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with RPIA           About GenesLikeMe



    (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)
    About This Section

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

    Browse Tocris compounds for RPIA

    3 HMDB Compounds for RPIA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Angiotensin IIHypertensin (see all 11)11128-99-7--
    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--

    1 DrugBank Compound for RPIA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    D-4-Phosphoerythronic Acid-- --target--17139284 17016423 10592235

    5 Novoseek inferred chemical compound relationships for RPIA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ribose 5-phosphate 95.5 20 19744161 (2), 14988808 (2), 17059404 (2), 16435188 (1) (see all 11)
    ribulose 5-phosphate 85.1 3 11842155 (1), 19744161 (1)
    xylitol 69.8 3 16274650 (1)
    glyceraldehyde 3-phosphate 56.1 1 19529819 (1)
    glucose 6-phosphate 42.6 1 11434371 (1)



    Find genes that share compounds with RPIA           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for RPIA gene: 
    NM_144563.2  

    Unigene Cluster for RPIA:

    Ribose 5-phosphate isomerase A
    Hs.469264  [show with all ESTs]
    Unigene Representative Sequence: NM_144563
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000283646(uc002ste.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RPIA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RPIA (see all 16):
    hsa-miR-3910 hsa-miR-124 hsa-miR-633 hsa-miR-641 hsa-miR-23a hsa-miR-506 hsa-miR-548c-3p hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidRPIA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RPIA
    Predesigned siRNA for gene silencing in human, mouse, rat RPIA
    Clone
    Products:
         
    OriGene clones in human, mouse for RPIA (see all 8)
    OriGene ORF clones in mouse, rat for RPIA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RPIA (NM_144563)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPIA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPIA
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RPIA
    OriGene qSTAR qPCR primer pairs in human, mouse for RPIA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPIA
      QuantiTect SYBR Green Assays in human, mouse, rat RPIA
      QuantiFast Probe-based Assays in human, mouse, rat RPIA

    Additional mRNA sequence: 

    AY050633.1 BC015529.1 L35035.1 X57416.1 

    3 DOTS entries:

    DT.453014  DT.100812219  DT.95273616 

    Selected AceView cDNA sequences (see all 203):

    AI368033 BM454640 CR599007 AI468983 CB145275 CR613216 BM788838 BI821808 
    CD370737 BM920736 CR624462 BM984448 AA425742 BX448545 BE468235 BM782074 
    BI489968 BQ015198 AA334873 BE219276 AA235573 AA355635 AA789168 AA453029 

    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)
    About This Section

    TryGeneCards Plus

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

    RPIA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPIA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.469264
        Pathway & Disease-focused RT2 Profiler PCR Array including RPIA: 
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RPIA
    OriGene qSTAR qPCR primer pairs in human, mouse for RPIA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPIA
    QuantiTect SYBR Green Assays in human, mouse, rat RPIA
    QuantiFast Probe-based Assays in human, mouse, rat RPIA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPIA

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPIA gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpia1 , 5 ribose 5-phosphate isomerase A1, 5 89.88(n)1
    91.42(a)1
      6 (32.06 cM)5
    198951  NM_009075.21  NP_033101.21 
     707657205 
    chicken
    (Gallus gallus)
    Aves RPIA1 ribose 5-phosphate isomerase A 78.35(n)
    83.98(a)
      422931  NM_001031170.1  NP_001026341.1 
    lizard
    (Anolis carolinensis)
    Reptilia RPIA6
    ribose 5-phosphate isomerase A
    73(a)
    1 ↔ 1
    6(59717772-59738613)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.247972 Xenopus laevis transcribed sequence with moderate similarity more 76.95(n)    BU909253.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rpia1 ribose 5-phosphate isomerase A (ribose 5-phosphate more 70.11(n)
    76.72(a)
      407673  NM_001007289.1  NP_001007290.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG304093
    Rpi1
    Ribose-5-phosphate isomerase1 60(a)
    (best of 2)3
    62.9(n)1
    61.3(a)1
      59D83
    2465991  NM_001259551.11  NP_001246480.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0280.33
    rpia-11
    rpia-11 47(a)3
    51.52(n)1
    47.62(a)1
      III(7194933-7195906)3
    1759951  NM_066155.51  NP_498556.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RKI1(YOR095C)4
    RKI11
    Ribose-5-phosphate ketol-isomerase, catalyzes the interconversion more4
    RKI11
    53.33(n)1
    47.83(a)1
      15(504328-503552)4
    8542621, 4  NP_014738.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RPI21 RPI2 49.57(n)
    42.74(a)
      814657  NM_126190.1  NP_178238.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for RPIA gene

    Find genes that share paralogs with RPIA           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RPIA
    PGOHUM00000234947


    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for RPIA (see all 1134)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0191224
    Ribose 5-phosphate isomerase deficiency (RPID)4--see VAR_0191222 A V mis40--------
    rs1443484231,2
    C--88773361(+) CTGTAA/CAATGG 1 -- us2k10--------
    rs1388734121,2
    C--88777473(+) AAGCTG/TCTGGA 1 -- int10--------
    rs2004544401,2
    C,F--88782524(+) GCATCG/ATGACA 1 -- int11Minor allele frequency- A:0.00EU 1323
    rs3677150241,2
    C--88787199(+) TCACCA/GTCCCG 1 -- int10--------
    rs621578071,2
    C,F--88802301(+) AACTTC/ACATAA 1 -- int12Minor allele frequency- A:0.22NA 122
    rs3681466711,2
    C--88802517(+) TTGGCA/GTGAGG 1 -- int10--------
    rs3777389911,2
    C--88812239(+) CTAAGC/TAGAAC 1 -- int10--------
    rs3697763331,2
    C--88812240(+) TAAGCA/TGAACT 1 -- int10--------
    rs3741495191,2
    C--88812241(+) AAGCAG/TAACTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for RPIA (88991162 - 89050452 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RPIA (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2104363CNV Deletion18987734
    dgv82e180CNV Deletion20482838
    dgv61n16CNV Deletion17901297
    esv2509341CNV Deletion19546169
    esv4683CNV Deletion18987735
    esv2720323CNV Deletion23290073
    esv1532292CNV Deletion17803354
    esv988060CNV Insertion20482838
    esv7597CNV Loss19470904
    nsv214854CNV Loss16902084

    Human Gene Mutation Database (HGMD): RPIA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPIA
    DNA2.0 Custom Variant and Variant Library Synthesis for RPIA

    (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

    TryGeneCards Plus
    OMIM gene information: 180430   
    OMIM disorders: 608611  
    UniProtKB/Swiss-Prot: RPIA_HUMAN, P49247
  • Ribose 5-phosphate isomerase deficiency (RPID) [MIM:608611]: A patient has been described with a
    deficiency of ribose 5-phosphate isomerase who presented with leukoencephalopathy and peripheral neuropathy.
    Proton magnetic resonance spectroscopy of the brain revealed a highly elevated level of the polyols ribitol and
    D-arabitol, which were subsequently also found in high concentrations in body fluids. Deficient activity of RPIA,
    one of the pentose phosphate pathway enzymes, has been demonstrated in fibroblasts. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 2 diseases for RPIA:    
    About MalaCards
    ribose 5-phosphate isomerase deficiency    necrotizing sialometaplasia


    Find genes that share disorders with RPIA           About GenesLikeMe

    1 Novoseek inferred disease relationship for RPIA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metabolic disorder 35.9 1 14988808 (1)

    Genetic Association Database (GAD): RPIA
    Human Genome Epidemiology (HuGE) Navigator: RPIA (4 documents)

    Export disorders for RPIA 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

    TryGeneCards Plus

    PubMed articles for RPIA gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with RPIA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ribose 5-phosphate isomerase-encoding gene is located immediately downstream from that encoding murine immunoglobulin kappa. (PubMed id 7758956)1, 2, 3, 9 Apel T.W.... Reth M. (Gene 1995)
    2. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. (PubMed id 14988808)1, 2, 9 Huck J.H.J....van der Knaap M.S. (Am. J. Hum. Genet. 2004)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. 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. (Genome Res. 2004)
    6. The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. (PubMed id 18987987)1, 9 Wamelink M.M....Jakobs C. (J. Inherit. Metab. Dis. 2008)
    7. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 22934 HGNC: 10297 AceView: RPIA Ensembl:ENSG00000153574 euGenes: HUgn22934
    ECgene: RPIA Kegg: 22934 H-InvDB: RPIA

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for RPIA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RPIA[genesymbol]

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

    TryGeneCards Plus
    Patent Information for RPIA gene:
    Search GeneIP for patents involving RPIA

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for RPIA  
     OriGene qPCR primer pairs and template standards for RPIA   OriGene Protein Over-expression Lysate for RPIA  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for RPIA  
     OriGene qSTAR qPCR primer pairs in human, mouse for RPIA   OriGene Purified Protein for RPIA  
     OriGene ORF clones in mouse, rat for RPIA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RPIA   OriGene Custom Protein Services for RPIA  

     
     
     Block miRNA regulation of human, mouse, rat RPIA using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RPIA
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPIA Predesigned siRNA for gene silencing in human, mouse, rat RPIA
     QuantiFast Probe-based Assays in human, mouse, rat RPIA QuantiTect SYBR Green Assays in human, mouse, rat RPIA
     PCR Arrays including human, mouse, rat RPIA Search Chromatin IP Primers for RPIA
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RPIA  Search GeneGlobe Interaction Network for RPIA
     Regulatory tfbs in RPIA promoter
     GenScript Custom Purified and Recombinant Proteins Services for RPIA GenScript cDNA clones with any tag delivered in your preferred vector for RPIA
     GenScript Custom Assay Services for RPIA GenScript Custom overexpressing Cell Line Services for RPIA
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for RPIA
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     RPIA antibodies
     RPIA proteins
     RPIA lysates
     Antibodies for RPIA
     See all of Abcam's Antibodies, Kits and Proteins for RPIA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for RPIA
     Proteins for RPIA
     Antibodies for RPIA
     ELISAs for RPIA
     CLIAs for RPIA



     Browse ESI BIO Cell Lines and PureStem Progenitors for RPIA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPIA
     SwitchGear 3'UTR luciferase reporter plasmids for RPIA
     SwitchGear Promoter luciferase reporter plasmids for RPIA
     Search ThermoFisher Antibodies for RPIA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPIA
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPIA
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RPIA
     LSBio Antibodies in human, mouse, rat for RPIA
     Browse compounds at ApexBio
     Search Addgene for plasmids for RPIA
      Search eBioscience for proteins for RPIA
      Search eBioscience for elisas for RPIA
      eBioscience FlowRNA Probe Sets
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     antibodies-online antibodies for RPIA (21 products)
     antibodies-online kits for RPIA (8 products)
     antibodies-online peptides for RPIA
     antibodies-online proteins for RPIA (68 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RPIA gene at Home site.
    Version: 3.12.234 23 Oct 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4