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    RPIA ribose 5-phosphate isomerase A [ Homo sapiens (human) ]

    Gene ID: 22934, updated on 17-Jun-2019

    Summary

    Official Symbol
    RPIAprovided by HGNC
    Official Full Name
    ribose 5-phosphate isomerase Aprovided by HGNC
    Primary source
    HGNC:HGNC:10297
    See related
    Ensembl:ENSG00000153574 MIM:180430
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RPI; RPIAD
    Summary
    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]
    Expression
    Ubiquitous expression in bone marrow (RPKM 30.3), placenta (RPKM 17.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See RPIA in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (88691673..88750929)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (88991176..89050452)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene EIF2AK3 divergent transcript Neighboring gene uncharacterized LOC102724805 Neighboring gene uncharacterized LOC105374853 Neighboring gene ankyrin repeat domain 36B pseudogene 2 Neighboring gene uncharacterized LOC105374855 Neighboring gene microRNA 4436a

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    monosaccharide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ribose-5-phosphate isomerase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    ribose-5-phosphate isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ribose-5-phosphate isomerase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    D-ribose metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    pentose-phosphate shunt TAS
    Traceable Author Statement
    more info
     
    pentose-phosphate shunt, non-oxidative branch IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ribose phosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ribose-5-phosphate isomerase
    Names
    phosphoriboisomerase
    ribose 5-phosphate epimerase
    NP_653164.2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016710.1 RefSeqGene

      Range
      5001..64277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_144563.3NP_653164.2  ribose-5-phosphate isomerase

      See identical proteins and their annotated locations for NP_653164.2

      Status: REVIEWED

      Source sequence(s)
      BC015529, BF063086, CB989690
      Consensus CDS
      CCDS2004.2
      UniProtKB/Swiss-Prot
      P49247
      Related
      ENSP00000283646.3, ENST00000283646.5
      Conserved Domains (1) summary
      cd01398
      Location:81298
      RPI_A; RPI_A: Ribose 5-phosphate isomerase type A (RPI_A) subfamily; RPI catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate, the first step of the non-oxidative branch of the pentose phosphate pathway. This reaction leads to the ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      88691673..88750929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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