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Aliases for RPIA Gene

Aliases for RPIA Gene

  • Ribose 5-Phosphate Isomerase A 2 3 5
  • Ribose 5-Phosphate Epimerase 2 3
  • Phosphoriboisomerase 3 4
  • EC 4 63
  • RPI 3 4
  • RPIAD 3

External Ids for RPIA Gene

Previous GeneCards Identifiers for RPIA Gene

  • GC02P088545
  • GC02P089284
  • GC02P088876
  • GC02P088893
  • GC02P088830
  • GC02P088991
  • GC02P087913

Summaries for RPIA Gene

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 Ribose-5-P Isomerase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Pentose phosphate pathway. GO annotations related to this gene include carbohydrate binding and ribose-5-phosphate isomerase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPIA Gene

Genomics for RPIA Gene

Regulatory Elements for RPIA Gene

Enhancers for RPIA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RPIA on UCSC Golden Path with GeneCards custom track

Promoters for RPIA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RPIA on UCSC Golden Path with GeneCards custom track

Genomic Location for RPIA Gene

88,691,644 bp from pter
88,750,935 bp from pter
59,292 bases
Plus strand

Genomic View for RPIA Gene

Genes around RPIA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPIA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPIA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPIA Gene

Proteins for RPIA Gene

  • Protein details for RPIA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ribose-5-phosphate isomerase
    Protein Accession:
    Secondary Accessions:
    • Q541P9
    • Q96BJ6

    Protein attributes for RPIA Gene

    311 amino acids
    Molecular mass:
    33269 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAK95569.1; Type=Frameshift; Positions=24; Evidence={ECO:0000305};

neXtProt entry for RPIA Gene

Proteomics data for RPIA Gene at MOPED

Selected DME Specific Peptides for RPIA Gene

Post-translational modifications for RPIA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPIA Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for RPIA Gene

Protein Domains for RPIA Gene

Suggested Antigen Peptide Sequences for RPIA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ribose 5-phosphate isomerase family.
  • Belongs to the ribose 5-phosphate isomerase family.
genes like me logo Genes that share domains with RPIA: view

No data available for Gene Families for RPIA Gene

Function for RPIA Gene

Molecular function for RPIA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
D-ribose 5-phosphate = D-ribulose 5-phosphate.

Enzyme Numbers (IUBMB) for RPIA Gene

Gene Ontology (GO) - Molecular Function for RPIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with RPIA: view
genes like me logo Genes that share phenotypes with RPIA: view

Human Phenotype Ontology for RPIA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RPIA Gene

MGI Knock Outs for RPIA:
  • Rpia tm1a(KOMP)Wtsi

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for RPIA Gene

Localization for RPIA Gene

Subcellular locations from

Jensen Localization Image for RPIA Gene COMPARTMENTS Subcellular localization image for RPIA gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 3
extracellular 2
chloroplast 1
endoplasmic reticulum 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RPIA Gene

Pathways & Interactions for RPIA Gene

genes like me logo Genes that share pathways with RPIA: view

UniProtKB/Swiss-Prot P49247-RPIA_HUMAN

  • Pathway: Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.

Gene Ontology (GO) - Biological Process for RPIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019693 ribose phosphate metabolic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with RPIA: view

No data available for SIGNOR curated interactions for RPIA Gene

Drugs & Compounds for RPIA Gene

(3) Drugs for RPIA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-4-Phosphoerythronic Acid Experimental Pharma Target 0
Angiotensin II Pharma Full agonist, Agonist Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 1126

(6) Additional Compounds for RPIA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
  • D-Ribose-5-P
  • D-Ribose-5-phosphate
  • D-Ribose-5-phosphorate
  • D-Ribose-5-phosphoric acid
D-Ribulose 5-phosphate
  • alpha-D-Ribose 5-phosphate
  • D-Ribulose 5-phosphate
  • Erythro-Pentulose 5-phosphate
  • Ribulose 5-phosphate
  • Ribulose phosphate
genes like me logo Genes that share compounds with RPIA: view

Transcripts for RPIA Gene

mRNA/cDNA for RPIA Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(203) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RPIA Gene

Ribose 5-phosphate isomerase A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RPIA Gene

No ASD Table

Relevant External Links for RPIA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RPIA Gene

mRNA expression in normal human tissues for RPIA Gene

Protein differential expression in normal tissues from HIPED for RPIA Gene

This gene is overexpressed in Nasal epithelium (20.0), Peripheral blood mononuclear cells (9.6), and Serum (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RPIA Gene

SOURCE GeneReport for Unigene cluster for RPIA Gene Hs.469264

genes like me logo Genes that share expression patterns with RPIA: view

Protein tissue co-expression partners for RPIA Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPIA Gene

Orthologs for RPIA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPIA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia RPIA 35
  • 90.74 (n)
  • 92.81 (a)
  • 92 (a)
(Canis familiaris)
Mammalia RPIA 35
  • 90.86 (n)
  • 94.52 (a)
-- 36
  • 94 (a)
-- 36
  • 90 (a)
(Mus musculus)
Mammalia Rpia 35
  • 89.88 (n)
  • 91.42 (a)
Rpia 16
Rpia 36
  • 91 (a)
(Pan troglodytes)
Mammalia RPIA 35
  • 99.79 (n)
  • 99.68 (a)
  • 100 (a)
(Rattus norvegicus)
Mammalia Rpia 35
  • 89.88 (n)
  • 91.09 (a)
(Monodelphis domestica)
Mammalia RPIA 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia RPIA 36
  • 87 (a)
(Gallus gallus)
Aves RPIA 35
  • 78.35 (n)
  • 83.98 (a)
  • 83 (a)
(Anolis carolinensis)
Reptilia RPIA 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rpia 35
  • 74.46 (n)
  • 81.39 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24797 35
(Danio rerio)
Actinopterygii rpia 35
  • 70.11 (n)
  • 76.72 (a)
rpia 36
  • 69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30409 37
  • 60 (a)
CG30410 37
  • 60 (a)
Rpi 35
  • 62.9 (n)
  • 61.3 (a)
Rpi 36
  • 59 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011457 35
  • 58.78 (n)
  • 62.21 (a)
(Caenorhabditis elegans)
Secernentea B0280.3 37
  • 47 (a)
rpia-1 35
  • 51.52 (n)
  • 47.62 (a)
rpia-1 36
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL077C 35
  • 53.79 (n)
  • 47.21 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13541g 35
  • 54.61 (n)
  • 48.51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RKI1 35
  • 53.33 (n)
  • 47.83 (a)
RKI1 36
  • 43 (a)
RKI1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons RPI2 35
  • 49.57 (n)
  • 42.74 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC144.12 35
  • 54.4 (n)
  • 49.35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
Species with no ortholog for RPIA:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPIA Gene

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

Paralogs for RPIA Gene Pseudogenes for RPIA Gene

genes like me logo Genes that share paralogs with RPIA: view

No data available for Paralogs for RPIA Gene

Variants for RPIA Gene

Sequence variations from dbSNP and Humsavar for RPIA Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_019122 Ribose 5-phosphate isomerase deficiency (RPID)
rs908277 -- 88,698,360(-) AGACA(A/G)GTACT intron-variant
rs938372 -- 88,700,251(-) ACCAA(A/G)TGATT intron-variant
rs1913670 -- 88,712,842(-) CAAAA(C/T)AAGAG intron-variant
rs4972012 -- 88,746,070(+) ctaat(C/T)tgttg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RPIA Gene

Variant ID Type Subtype PubMed ID
dgv61n16 CNV Deletion 17901297
nsv470476 CNV Gain 18288195
nsv874582 CNV Gain 21882294
nsv834290 CNV Loss 17160897
esv988060 CNV Insertion 20482838
nsv874583 CNV Gain 21882294
dgv4228n71 CNV Gain 21882294
esv2509341 CNV Deletion 19546169
esv2104363 CNV Deletion 18987734
nsv511794 CNV Loss 21212237
dgv82e180 CNV Deletion 20482838
esv4683 CNV Deletion 18987735
esv2720323 CNV Deletion 23290073
esv1532292 CNV Deletion 17803354
esv7597 CNV Loss 19470904
nsv214854 CNV Loss 16902084

Variation tolerance for RPIA Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPIA Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPIA Gene

Disorders for RPIA Gene

MalaCards: The human disease database

(4) MalaCards diseases for RPIA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ribose 5-phosphate isomerase deficiency
  • rpid
ribose-5-p isomerase deficiency
  • causalgia nos
  • mononeuropathies
- elite association - COSMIC cancer census association via MalaCards
Search RPIA in MalaCards View complete list of genes associated with diseases


  • 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. {ECO:0000269 PubMed:14988808}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RPIA

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RPIA: view

No data available for Genatlas for RPIA Gene

Publications for RPIA Gene

  1. The ribose 5-phosphate isomerase-encoding gene is located immediately downstream from that encoding murine immunoglobulin kappa. (PMID: 7758956) Apel T.W. … Reth M. (Gene 1995) 2 3 4 23 67
  2. The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review. (PMID: 18987987) Wamelink M.M. … Jakobs C. (J. Inherit. Metab. Dis. 2008) 3 23
  3. Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. (PMID: 14988808) Huck J.H.J. … van der Knaap M.S. (Am. J. Hum. Genet. 2004) 3 23
  4. Ribose-5-phosphate isomerase A regulates hepatocarcinogenesis via PP2A and ERK signaling. (PMID: 25429733) Ciou S.C. … Wang H.D. (Int. J. Cancer 2015) 3
  5. Structural modeling and docking studies of ribose 5-phosphate isomerase from Leishmania major and Homo sapiens: a comparative analysis for Leishmaniasis treatment. (PMID: 25528729) Capriles P.V. … Dardenne L.E. (J. Mol. Graph. Model. 2015) 3

Products for RPIA Gene

Sources for RPIA Gene