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Aliases for RPIA Gene

Aliases for RPIA Gene

  • Ribose 5-Phosphate Isomerase A 2 3
  • RPI 3 4 6
  • Ribose 5-Phosphate Epimerase 2 3
  • Phosphoriboisomerase 3 4
  • EC 5.3.1.6 4 63
  • Ribose-5-Phosphate Isomerase 3
  • 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. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include monosaccharide 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

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:
Reactome Protein details:
REFSEQ proteins:

Domains 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 :
  • P49247
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

Phenotypes for RPIA Gene

GenomeRNAi human phenotypes for RPIA:
genes like me logo Genes that share phenotypes with RPIA: view

Animal Model Products

CRISPR Products

No data available for Animal Models , Transcription Factor Targeting 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
chloroplast 2
extracellular 2
nucleus 2
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 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 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

Compounds for RPIA Gene

(3) HMDB Compounds for RPIA Gene

Compound Synonyms Cas Number PubMed IDs
Angiotensin II
  • Hypertensin
11128-99-7
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
3615-55-2
D-Ribulose 5-phosphate
  • D-Ribulose 5-phosphate
4151-19-3

(1) Drugbank Compounds for RPIA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
D-4-Phosphoerythronic Acid
target

(5) Novoseek inferred chemical compound relationships for RPIA Gene

Compound -log(P) Hits PubMed IDs
ribose 5-phosphate 95.5 14
ribulose 5-phosphate 85.1 2
xylitol 69.8 1
glyceraldehyde 3-phosphate 56.1 1
glucose 6-phosphate 42.6 1
genes like me logo Genes that share compounds with RPIA: view

Transcripts for RPIA Gene

mRNA/cDNA for RPIA Gene

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

Unigene Clusters for RPIA Gene

Ribose 5-phosphate isomerase A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RPIA

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with RPIA: view

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
chimpanzee
(Pan troglodytes)
Mammalia RPIA 35
  • 99.79 (n)
  • 99.68 (a)
RPIA 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPIA 35
  • 90.74 (n)
  • 92.81 (a)
RPIA 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
RPIA 35
  • 90.86 (n)
  • 94.52 (a)
mouse
(Mus musculus)
Mammalia Rpia 35
  • 89.88 (n)
  • 91.42 (a)
Rpia 16
Rpia 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RPIA 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPIA 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rpia 35
  • 89.88 (n)
  • 91.09 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.24797 35
tropical clawed frog
(Silurana tropicalis)
Amphibia rpia 35
  • 74.46 (n)
  • 81.39 (a)
zebrafish
(Danio rerio)
Actinopterygii rpia 35
  • 70.11 (n)
  • 76.72 (a)
rpia 36
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011457 35
  • 58.78 (n)
  • 62.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta Rpi 35
  • 62.9 (n)
  • 61.3 (a)
Rpi 36
  • 59 (a)
OneToOne
CG30409 37
  • 60 (a)
CG30410 37
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea rpia-1 35
  • 51.52 (n)
  • 47.62 (a)
rpia-1 36
  • 45 (a)
OneToOne
B0280.3 37
  • 47 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL077C 35
  • 53.79 (n)
  • 47.21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RKI1 35
  • 53.33 (n)
  • 47.83 (a)
RKI1 36
  • 43 (a)
OneToOne
RKI1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13541g 35
  • 54.61 (n)
  • 48.51 (a)
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

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

MalaCards: The human disease database. (1) Diseases for RPIA Gene including...

Search for RPIA Gene in MalaCards »

(1) OMIM Diseases for RPIA Gene (180430)

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.

(1) Novoseek inferred disease relationships for RPIA Gene

Disease -log(P) Hits PubMed IDs
metabolic disorder 35.9 1

Relevant External Links for RPIA

Genetic Association Database (GAD)
RPIA
Human Genome Epidemiology (HuGE) Navigator
RPIA
genes like me logo Genes that share disorders with RPIA: view

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
  2. 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 4 23
  3. 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
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48

Products for RPIA Gene

Sources for RPIA Gene

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