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

RPIA Gene

protein-coding   GIFtS: 62
GCID: GC02P088991

ribose 5-phosphate isomerase A
 Explore 8 diseases affiliated with
RPIA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RPIA    

Aliases
for RPIA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ribose 5-Phosphate Isomerase A1 2     Ribose 5-Phosphate Epimerase2
RPI2 3 5     Ribose-5-Phosphate Isomerase2
EC 5.3.1.63 8     Phosphoriboisomerase3
Phosphoriboisomerase3     

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


Summaries
for RPIA 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 RPIA:
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)




Genomic Views
for RPIA 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_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences 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 plasmid: RPIA promoter sequence
   Search SABiosciences Chromatin IP Primers for RPIA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for RPIA 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P49247

    • 4/6 DME Specific Peptides for RPIA (P49247) (see all 6)
     VVTDNGN  DGADEVD  GVVDTGLF  KAGPVVTD 

    RPIA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_653164.2  
    ENSEMBL proteins: 
     ENSP00000283646  
    Reactome Protein details: P49247
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: RPIA
    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
    ProSpec Recombinant Protein for RPIA
    Uscn Proteins for RPIA

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS--
    GO:0005625soluble fraction ----
    GO:0005792microsome ----
    GO:0005829cytosol TAS--
    GO:0043231intracellular membrane-bounded organelle IEA--


    RPIA for ontologies           About GeneDecksing



    RPIA Antibody Products: 
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    Uscn Antibodies for RPIA
    Search ThermoFisher Antibodies for RPIA

    Assay Products for RPIA: 
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    Uscn ELISAs and CLIAs for RPIA

    Protein Domains /
    Families
    for RPIA gene

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

    2 InterPro domains/families:
     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


    Function
    for RPIA 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: RPIA_HUMAN, P49247
    Catalytic activity: D-ribose 5-phosphate = D-ribulose 5-phosphate

    Enzyme Number (IUBMB): EC 5.3.1.61 2

    miRNA
    Products:            		miRTarBase miRNAs that target RPIA:
    hsa-mir-373 (MIRT002559), hsa-let-7b (MIRT001851)

    OriGene 3'-UTR Clone: RPIA
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RPIA
    8/16 QIAGEN miScript miRNA 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 plasmid: RPIA 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 RPIA (see all 7)
    OriGene shRNA RFP: RPIA
    OriGene siRNA: RPIA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RPIA

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RPIA (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RPIA (see all 2)
    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
    Search LifeMap BioReagents cell lines for RPIA

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

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004751ribose-5-phosphate isomerase activity NAS7758956
    GO:0048029monosaccharide binding IEA--


    RPIA for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for RPIA 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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Pentose phosphate pathway (hexose monophosphate shunt)
    		Pentose phosphate pathway (hexose monophosphate shunt)1.00
    		pentose phosphate pathway0.67
    		Pentose Phosphate Pathway0.88
    		pentose phosphate pathway (non-oxidative branch)0.33
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Pentose phosphate pathway
    		Pentose phosphate pathway1.00
    4MPS IIIC - Sanfilippo syndrome C
    		Metabolism of carbohydrates0.47

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    3        Reactome Pathways for RPIA
        Metabolism of carbohydrates
    Pentose phosphate pathway (hexose monophosphate shunt)
    Metabolism


    2         Kegg Pathways  (Kegg details for RPIA):
        Pentose phosphate pathway
    Metabolic pathways

    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


    RPIA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RPIA

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

    5/42 Interacting proteins for RPIA (P492472, 3 ENSP000002836464) via UniProtKB, MINT, STRING, and/or I2D (see all 42)

    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 (GO ID links to tree view):    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 NAS--
    GO:0019693ribose phosphate metabolic process IEA--
    GO:0044281small molecule metabolic process TAS--


    RPIA for ontologies           About GeneDecksing



    Drugs & Compounds
    for RPIA 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

    RPIA for compounds           About GeneDecksing

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

    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 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)

    Search CenterWatch for drugs/clinical trials and news about RPIA 

    Transcripts
    for RPIA 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 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:             		 OriGene 3'-UTR Clone: RPIA
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RPIA
    8/16 QIAGEN miScript miRNA 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 plasmid: RPIA 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 RPIA (see all 7)
    OriGene shRNA RFP: RPIA
    OriGene siRNA: RPIA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RPIA
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RPIA (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RPIA (see all 2)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for RPIA
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RPIA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RPIA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RPIA

    Additional cDNA sequence: 

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

    3 DOTS entries:

    DT.453014  DT.100812219  DT.95273616 

    24/203 AceView cDNA sequences (see all 203):

    BE219276 AA235573 AA355635 AA453029 AA594692 CR620468 AA789168 CR591516 
    CR621693 BI835798 BF063086 BQ691055 AA864898 CR592299 AA333695 AI290679 
    AA280589 BM766574 BC015529 BQ690705 BI770144 BX425041 NM_144563 AA333839 

    GeneLoc Exon Structure


    Expression
    for RPIA 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

    RPIA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTTGGCGTC

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

    RPIA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.469264
        SABiosciences Expression via Pathway-Focused PCR Array including RPIA: 
              Glucose Metabolism in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RPIA
    Browse OriGene validated miRNA SYBR primer pairs
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    QIAGEN 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
    for RPIA 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 RPIA gene from 11/36 species (see all 36)    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
    		 --
    		 74(a)
    		 1 ↔ 1
    		 6(59718504-59735356)
    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
    CG304101    		 CG304101 60(a)
    (best of 2)3
    62.9(n)1
    61.3(a)1    		   59D83
    2465991  NM_166594.21  NP_726309.31 
    worm
    (Caenorhabditis elegans)    		 Secernentea B0280.33
    rpia-11    		 Protein RPIA-11 47(a)3
    52.05(n)1
    48.25(a)1    		   III(7194933-7195906)3
    1759951  NM_066155.41  NP_498556.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes RKI1(YOR095C)4
    RKI11    		 Ribose-5-phosphate ketol-isomerase, catalyzes the interconversion more4
    Rki1p1    		 53.33(n)1
    47.83(a)1    		   15(504328-503552)4
    8542621, 4  NP_014738.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons RPI26
    RSW106
    (see all 4)    		 ribose 5-phosphate isomerase A
    (see all 4)    		 35(a)
    33(a)
    (see all 4)    		 possible ortholog
    possible ortholog
    (see all 4)    		 2(148919-150382)
    1(26814632-26815671)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 ribose-5-phosphate isomerase A, putative, expresse...
    ribose-5-phosphate isomerase A, putative, expresse...
    (see all 3)    		 31(a)
    29(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 7(4067003-4069238)
    4(13792992-13794259)


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

    Paralogs
    for RPIA gene

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

    RPIA for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RPIA
    PGOHUM00000234947


    Genomic Variants
    for RPIA 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

    10/892 NCBI SNPs in RPIA are shown (see all 892)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs67529521,2
    		C,F,A,H,--88989192(+) CAGACT/CTTGTC 1 -- us2k110Minor allele frequency- C:0.10NS EA WA NA CSA 544
    rs1852896441,2
    		--88989238(+) GTTATA/GAGCAA 1 -- us2k10--------
    rs67379221,2
    		C,F,A,H,--88989266(+) GGACAC/TGTCGT 1 -- us2k19Minor allele frequency- T:0.10NS EA WA NA CSA 544
    rs791039551,2
    		F,--88989332(+) GTAATT/CGTGAG 1 -- us2k11Minor allele frequency- C:0.07WA 118
    rs1414040871,2
    		--88989411(+) GTCTTA/GAAGAA 1 -- us2k10--------
    rs67382761,2
    		C,F,--88989440(+) GTACAG/AAGTGT 1 -- us2k15Minor allele frequency- A:0.21WA CSA NA 244
    rs340154391,2
    		C,F,--88989452(-) CCGTGT/GTTTTG 1 -- us2k112Minor allele frequency- G:0.17NA WA CSA EA 374
    rs1148449931,2
    		--88989456(+) ACCACG/AGAGGT 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs751700521,2
    		--88989509(+) TGGAGC/TGTAGG 1 -- us2k10--------
    rs1901878591,2
    		--88989594(+) TTTAGA/GAATGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RPIA (88991162 - 89050452 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for RPIA
         7 CNVs: 39257 43524 23619 44036 5989 61789 97913
    Human Gene Mutation Database (HGMD): RPIA

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for RPIA 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
    RPIA for disorders           About GeneDecksing

    OMIM gene information: 180430   
    OMIM disorders: 608611  
    UniProtKB/Swiss-Prot: RPIA_HUMAN, P49247
  • Defects in RPIA are the cause of 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

    8 diseases for RPIA:    About MalaCards
    ribose 5-phosphate isomerase deficiency    causalgia    metabolic disorders    peripheral neuropathy
    neuropathy    pertussis    pneumonia    malaria

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: RPIA (4 documents)

    Export disorders for RPIA gene to outside databases

    Publications
    for RPIA 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 RPIA gene, integrated from 9 sources (see all 31):
    (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. (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. (2004)
    3. 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)
    4. The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. (PubMed id 18987987)1, 9 Wamelink M.M....Jakobs C. (2008)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    9. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    10. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)

    External Searches for RPIA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing RPIA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22934 HGNC: 10297 AceView: RPIA Ensembl:ENSG00000153574 euGenes: HUgn22934
    ECgene: RPIA Kegg: 22934 H-InvDB: RPIA

    Other Databases showing RPIA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RPIA 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 RPIA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPIA

    Intellectual Property
    for RPIA gene

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



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