Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P49247

- RPIA_HUMAN

UniProt

P49247 - RPIA_HUMAN

Protein

Ribose-5-phosphate isomerase

Gene

RPIA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 3 (24 Jul 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Catalytic activityi

    D-ribose 5-phosphate = D-ribulose 5-phosphate.

    Pathwayi

    GO - Molecular functioni

    1. monosaccharide binding Source: Ensembl
    2. ribose-5-phosphate isomerase activity Source: UniProtKB

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. pentose-phosphate shunt Source: Reactome
    3. pentose-phosphate shunt, non-oxidative branch Source: Ensembl
    4. ribose phosphate metabolic process Source: Ensembl
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Isomerase

    Enzyme and pathway databases

    ReactomeiREACT_1859. Pentose phosphate pathway (hexose monophosphate shunt).
    UniPathwayiUPA00115; UER00412.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ribose-5-phosphate isomerase (EC:5.3.1.6)
    Alternative name(s):
    Phosphoriboisomerase
    Gene namesi
    Name:RPIA
    Synonyms:RPI
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:10297. RPIA.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. intracellular membrane-bounded organelle Source: Ensembl

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti135 – 1351A → V in RPID. 1 Publication
    VAR_019122

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi608611. phenotype.
    PharmGKBiPA34659.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 311311Ribose-5-phosphate isomerasePRO_0000158521Add
    BLAST

    Proteomic databases

    MaxQBiP49247.
    PaxDbiP49247.
    PRIDEiP49247.

    PTM databases

    PhosphoSiteiP49247.

    Expressioni

    Gene expression databases

    ArrayExpressiP49247.
    BgeeiP49247.
    CleanExiHS_RPIA.
    GenevestigatoriP49247.

    Organism-specific databases

    HPAiHPA042620.

    Interactioni

    Protein-protein interaction databases

    BioGridi116594. 9 interactions.
    IntActiP49247. 8 interactions.
    MINTiMINT-1440254.
    STRINGi9606.ENSP00000283646.

    Structurei

    3D structure databases

    ProteinModelPortaliP49247.
    SMRiP49247. Positions 79-308.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0120.
    HOGENOMiHOG000276369.
    HOVERGENiHBG017746.
    InParanoidiP49247.
    KOiK01807.
    OMAiMDQLEMK.
    OrthoDBiEOG7V1FS4.
    PhylomeDBiP49247.
    TreeFamiTF105758.

    Family and domain databases

    HAMAPiMF_00170. Rib_5P_isom_A.
    InterProiIPR004788. Ribose5P_isomerase_typA.
    IPR020672. Ribose5P_isomerase_typA_subgr.
    [Graphical view]
    PANTHERiPTHR11934. PTHR11934. 1 hit.
    PfamiPF06026. Rib_5-P_isom_A. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR00021. rpiA. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P49247-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQRPGPFSTL YGRVLAPLPG RAGGAASGGG GNSWDLPGSH VRLPGRAQSG    50
    TRGGAGNTST SCGDSNSICP APSTMSKAEE AKKLAGRAAV ENHVRNNQVL 100
    GIGSGSTIVH AVQRIAERVK QENLNLVCIP TSFQARQLIL QYGLTLSDLD 150
    RHPEIDLAID GADEVDADLN LIKGGGGCLT QEKIVAGYAS RFIVIADFRK 200
    DSKNLGDQWH KGIPIEVIPM AYVPVSRAVS QKFGGVVELR MAVNKAGPVV 250
    TDNGNFILDW KFDRVHKWSE VNTAIKMIPG VVDTGLFINM AERVYFGMQD 300
    GSVNMREKPF C 311
    Length:311
    Mass (Da):33,269
    Last modified:July 24, 2007 - v3
    Checksum:i4ED587A40F10223D
    GO

    Sequence cautioni

    The sequence AAK95569.1 differs from that shown. Reason: Frameshift at position 24.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti207 – 2071D → V in L35035. (PubMed:7758956)Curated
    Sequence conflicti239 – 2391L → V in L35035. (PubMed:7758956)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti135 – 1351A → V in RPID. 1 Publication
    VAR_019122

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY050633 mRNA. Translation: AAK95569.1. Frameshift.
    BC015529 mRNA. Translation: AAH15529.2.
    L35035 mRNA. No translation available.
    CCDSiCCDS2004.2.
    RefSeqiNP_653164.2. NM_144563.2.
    UniGeneiHs.469264.

    Genome annotation databases

    EnsembliENST00000283646; ENSP00000283646; ENSG00000153574.
    GeneIDi22934.
    KEGGihsa:22934.
    UCSCiuc002ste.3. human.

    Polymorphism databases

    DMDMi156637353.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY050633 mRNA. Translation: AAK95569.1 . Frameshift.
    BC015529 mRNA. Translation: AAH15529.2 .
    L35035 mRNA. No translation available.
    CCDSi CCDS2004.2.
    RefSeqi NP_653164.2. NM_144563.2.
    UniGenei Hs.469264.

    3D structure databases

    ProteinModelPortali P49247.
    SMRi P49247. Positions 79-308.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116594. 9 interactions.
    IntActi P49247. 8 interactions.
    MINTi MINT-1440254.
    STRINGi 9606.ENSP00000283646.

    PTM databases

    PhosphoSitei P49247.

    Polymorphism databases

    DMDMi 156637353.

    Proteomic databases

    MaxQBi P49247.
    PaxDbi P49247.
    PRIDEi P49247.

    Protocols and materials databases

    DNASUi 22934.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000283646 ; ENSP00000283646 ; ENSG00000153574 .
    GeneIDi 22934.
    KEGGi hsa:22934.
    UCSCi uc002ste.3. human.

    Organism-specific databases

    CTDi 22934.
    GeneCardsi GC02P088991.
    H-InvDB HIX0002249.
    HGNCi HGNC:10297. RPIA.
    HPAi HPA042620.
    MIMi 180430. gene.
    608611. phenotype.
    neXtProti NX_P49247.
    PharmGKBi PA34659.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0120.
    HOGENOMi HOG000276369.
    HOVERGENi HBG017746.
    InParanoidi P49247.
    KOi K01807.
    OMAi MDQLEMK.
    OrthoDBi EOG7V1FS4.
    PhylomeDBi P49247.
    TreeFami TF105758.

    Enzyme and pathway databases

    UniPathwayi UPA00115 ; UER00412 .
    Reactomei REACT_1859. Pentose phosphate pathway (hexose monophosphate shunt).

    Miscellaneous databases

    GenomeRNAii 22934.
    NextBioi 43675.
    PROi P49247.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P49247.
    Bgeei P49247.
    CleanExi HS_RPIA.
    Genevestigatori P49247.

    Family and domain databases

    HAMAPi MF_00170. Rib_5P_isom_A.
    InterProi IPR004788. Ribose5P_isomerase_typA.
    IPR020672. Ribose5P_isomerase_typA_subgr.
    [Graphical view ]
    PANTHERi PTHR11934. PTHR11934. 1 hit.
    Pfami PF06026. Rib_5-P_isom_A. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00021. rpiA. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of human ribose 5-phosphate isomerase (RPI) gene."
      Guo J.H., Yu L.
      Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Pancreas.
    3. "The ribose 5-phosphate isomerase-encoding gene is located immediately downstream from that encoding murine immunoglobulin kappa."
      Apel T.W., Scherer A., Adachi T., Auch D., Ayane M., Reth M.
      Gene 156:191-197(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 186-311.
      Tissue: B-cell.
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. "Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy."
      Huck J.H.J., Verhoeven N.M., Struys E.A., Salomons G.S., Jakobs C., van der Knaap M.S.
      Am. J. Hum. Genet. 74:745-751(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT RPID VAL-135.

    Entry informationi

    Entry nameiRPIA_HUMAN
    AccessioniPrimary (citable) accession number: P49247
    Secondary accession number(s): Q541P9, Q96BJ6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: July 24, 2007
    Last modified: October 1, 2014
    This is version 129 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3