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Aliases for RPIA Gene

Aliases for RPIA Gene

  • Ribose 5-Phosphate Isomerase A 2 3
  • Ribose 5-Phosphate Epimerase 2 3
  • Phosphoriboisomerase 3 4
  • EC 5.3.1.6 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 causalgia. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RPIA Gene

Chromosome:
2
Start:
88,691,644 bp from pter
End:
88,750,935 bp from pter
Size:
59,292 bases
Orientation:
Plus strand

Genomic View for RPIA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    P49247-RPIA_HUMAN
    Recommended name:
    Ribose-5-phosphate isomerase
    Protein Accession:
    P49247
    Secondary Accessions:
    • Q541P9
    • Q96BJ6

    Protein attributes for RPIA Gene

    Size:
    311 amino acids
    Molecular mass:
    33269 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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:

Antibody Products

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

P49247

UniProtKB/Swiss-Prot:

RPIA_HUMAN :
  • Belongs to the ribose 5-phosphate isomerase family.
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:0004751 ribose-5-phosphate isomerase activity NAS 7758956
GO:0005515 protein binding IPI 16189514
GO:0030246 carbohydrate binding --
GO:0048029 monosaccharide binding IEA --
genes like me logo Genes that share ontologies with RPIA: view
genes like me logo Genes that share phenotypes with RPIA: view

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for RPIA Gene

Localization for RPIA Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RPIA Gene COMPARTMENTS Subcellular localization image for RPIA gene
Compartment Confidence
cytosol 4
nucleus 2
plasma membrane 2
chloroplast 1
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for RPIA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with RPIA: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPIA Gene

Pathways & Interactions for RPIA Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0005975 carbohydrate metabolic process TAS --
GO:0006098 pentose-phosphate shunt TAS --
GO:0009052 pentose-phosphate shunt, non-oxidative branch IEA --
GO:0019693 ribose phosphate metabolic process --
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: NovoSeek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-4-Phosphoerythronic Acid Experimental Pharma Target 0
Glucose 6-phosphate Experimental Pharma 0
Angiotensin II Pharma Full agonist, Agonist Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 985

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

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
3615-55-2
D-Ribulose 5-phosphate
  • alpha-D-Ribose 5-phosphate
  • D-Ribulose 5-phosphate
  • Erythro-Pentulose 5-phosphate
  • Ribulose 5-phosphate
  • Ribulose phosphate
4151-19-3
glyceraldehyde 3-phosphate
ribose 5-phosphate
ribulose 5-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
RPIA
ECgene alternative splicing isoforms for
RPIA

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

In Situ Assay 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
cow
(Bos Taurus)
Mammalia RPIA 35
  • 90.74 (n)
  • 92.81 (a)
RPIA 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPIA 35
  • 90.86 (n)
  • 94.52 (a)
-- 36
  • 94 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Rpia 35
  • 89.88 (n)
  • 91.42 (a)
Rpia 16
Rpia 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RPIA 35
  • 99.79 (n)
  • 99.68 (a)
RPIA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rpia 35
  • 89.88 (n)
  • 91.09 (a)
oppossum
(Monodelphis domestica)
Mammalia RPIA 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPIA 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPIA 35
  • 78.35 (n)
  • 83.98 (a)
RPIA 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPIA 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpia 35
  • 74.46 (n)
  • 81.39 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24797 35
zebrafish
(Danio rerio)
Actinopterygii rpia 35
  • 70.11 (n)
  • 76.72 (a)
rpia 36
  • 69 (a)
OneToOne
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)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011457 35
  • 58.78 (n)
  • 62.21 (a)
worm
(Caenorhabditis elegans)
Secernentea B0280.3 37
  • 47 (a)
rpia-1 35
  • 51.52 (n)
  • 47.62 (a)
rpia-1 36
  • 45 (a)
OneToOne
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)
OneToOne
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)
OneToOne
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

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

Paralogs for RPIA Gene

Pseudogenes.org 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 MAF
rs6974 -- 88,750,609(-) TTATA(A/C)ACCTG utr-variant-3-prime
rs14918 -- 88,750,816(-) AAAAA(A/G)AAAAT utr-variant-3-prime
rs335114 -- 88,727,838(+) TCTTT(A/G)ATAAG intron-variant
rs335115 -- 88,728,129(+) aaaca(C/T)cacaa intron-variant
rs335116 -- 88,728,221(+) gtctt(A/T)tcctt 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: 49.94% 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

HapMap Linkage Disequilibrium report
RPIA
Human Gene Mutation Database (HGMD)
RPIA

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

Disorders for RPIA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ribose 5-phosphate isomerase deficiency
  • rpid
causalgia
  • complex regional pain syndrome, type ii
mononeuropathy
  • mononeuropathies
- elite association
Search RPIA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RPIA_HUMAN
  • 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)
RPIA
Human Genome Epidemiology (HuGE) Navigator
RPIA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPIA
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 23 67
  2. Deficiency in a cytosolic ribose-5-phosphate isomerase causes chloroplast dysfunction, late flowering and premature cell death in Arabidopsis. (PMID: 19744161) Xiong Y. … Mou Z. (Physiol Plant 2009) 23 67
  3. Immunoelectron microscopy for locating calvin cycle enzymes in the thylakoids of synechocystis 6803. (PMID: 19529819) Agarwal R. … Melzer M. (Mol Plant 2009) 23 67
  4. Competitive inhibitors of type B ribose 5-phosphate isomerases: design, synthesis and kinetic evaluation of new D-allose and D-allulose 6-phosphate derivatives. (PMID: 19328460) Mariano S. … Salmon L. (Carbohydr. Res. 2009) 23 67
  5. 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) 23 67

Products for RPIA Gene

Sources for RPIA Gene

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