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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 5.3.1.6 4 61
  • RPI 3 4
  • 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 and Causalgia. Among its related pathways are Pentose phosphate pathway and Glycosaminoglycan metabolism. GO annotations related to this gene include carbohydrate binding and ribose-5-phosphate isomerase activity.

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G088751 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.6 +62.3 62341 5.2 HDAC1 PKNOX1 TAL1 ETV1 ZNF175 CEBPG IRF9 TCF12 POLR2A SCRT2 RPIA ANKRD36BP2 LOC101928403 EIF2AK3 GC02P088737
GH02G088598 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -90.5 -90498 4.5 PKNOX1 WRNIP1 ARID4B SIN3A FOS DEK SP3 ZHX2 JUNB REST EIF2AK3 LOC101928403 RPIA ANKRD36BP2 GC02P088558
GH02G088614 1.3 FANTOM5 ENCODE dbSUPER 11.4 -76.4 -76354 2.3 HDGF BMI1 ARID3A EED ETV6 RELB IKZF2 CREM MTA2 BHLHE40 RPIA EIF2AK3 LOC101928403 GC02P088558
GH02G088626 1.4 ENCODE dbSUPER 9.9 -63.8 -63842 3.7 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC LOC101928403 LOC730268 RPIA TEX37 ANKRD36BP2 EIF2AK3 GC02M088650
GH02G088605 1.1 ENCODE dbSUPER 11.1 -83.9 -83855 4.9 TBP PKNOX1 TBL1XR1 CBX5 RELB ETV6 IKZF2 CREM ZNF362 CBFB ANKRD36BP2 RPIA TEX37 EIF2AK3 LOC101928403 GC02P088558
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000119979 256 1801 PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1

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

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:
    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

Selected DME Specific Peptides for RPIA Gene

P49247:
  • DGADEVD
  • DLAIDGAD
  • GVVDTGLF
  • VVTDNGN
  • LNLIKGGG
  • KAGPVVTD

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

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:0016853 isomerase activity IEA --
GO:0030246 carbohydrate binding IEA --
GO:0042802 identical 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

CRISPR Products

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

Localization for RPIA Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPIA gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 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 IBA,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

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:0006014 D-ribose metabolic process IBA --
GO:0006098 pentose-phosphate shunt TAS --
GO:0009052 pentose-phosphate shunt, non-oxidative branch IBA --
GO:0019693 ribose phosphate metabolic process IEA --
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. 1178

(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
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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RPIA Gene



Protein tissue co-expression partners for RPIA Gene

NURSA nuclear receptor signaling pathways regulating expression of RPIA Gene:

RPIA

SOURCE GeneReport for Unigene cluster for RPIA Gene:

Hs.469264

Evidence on tissue expression from TISSUES for RPIA Gene

  • Pancreas(4.2)
  • Nervous system(2.7)
  • Heart(2.3)
  • Muscle(2.3)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPIA Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with RPIA: view

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
chimpanzee
(Pan troglodytes)
Mammalia RPIA 34 35
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 94 (a)
OneToMany
RPIA 34
  • 90.86 (n)
-- 35
  • 90 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RPIA 34 35
  • 90.74 (n)
mouse
(Mus musculus)
Mammalia Rpia 34 16 35
  • 89.88 (n)
rat
(Rattus norvegicus)
Mammalia Rpia 34
  • 89.88 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPIA 35
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RPIA 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPIA 34 35
  • 78.35 (n)
lizard
(Anolis carolinensis)
Reptilia RPIA 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpia 34
  • 74.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24797 34
zebrafish
(Danio rerio)
Actinopterygii rpia 34 35
  • 70.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rpi 34 35
  • 62.9 (n)
CG30409 36
  • 60 (a)
CG30410 36
  • 60 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011457 34
  • 58.78 (n)
worm
(Caenorhabditis elegans)
Secernentea rpia-1 34 35
  • 51.52 (n)
B0280.3 36
  • 47 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13541g 34
  • 54.61 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL077C 34
  • 53.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RKI1 34 35 37
  • 53.33 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RPI2 34
  • 49.57 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC144.12 34
  • 54.4 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToOne
Species where no ortholog for RPIA was found in the sources mined by GeneCards:
  • 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
rs121918591 Pathogenic, Ribose 5-phosphate isomerase deficiency (RPID) [MIM:608611] 88,729,279(+) GCAGG(C/T)CCGCC reference, missense
rs730880316 Pathogenic 88,738,000(+) AATGG(-/G)AATTT reference, frameshift-variant
rs142341148 Likely benign 88,750,000(+) GGCCT(A/G)TTCAT reference, synonymous-codon
rs371885783 Likely benign 88,750,680(+) GAAAA(-/GTT)TGTTA utr-variant-3-prime
rs72930711 Likely benign 88,736,571(+) CACAA(A/C/G)GGAAT reference, synonymous-codon, missense

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

Variant ID Type Subtype PubMed ID
dgv61n16 CNV deletion 17901297
dgv6947n54 CNV gain 21841781
dgv82e180 CNV deletion 20482838
esv1532292 CNV deletion 17803354
esv2104363 CNV deletion 18987734
esv2509341 CNV deletion 19546169
esv2720323 CNV deletion 23290073
esv2843236 CNV deletion 24192839
esv3559790 CNV deletion 23714750
esv3591594 CNV loss 21293372
esv4683 CNV loss 18987735
esv7597 CNV loss 19470904
esv988060 CNV insertion 20482838
nsv1072005 CNV deletion 25765185
nsv1114103 CNV deletion 24896259
nsv1130752 CNV deletion 24896259
nsv1134881 CNV deletion 24896259
nsv1148611 CNV deletion 26484159
nsv214854 CNV deletion 16902084
nsv470476 CNV gain 18288195
nsv511794 CNV loss 21212237
nsv582384 CNV loss 21841781
nsv582386 CNV loss 21841781
nsv834290 CNV loss 17160897
nsv956626 CNV deletion 24416366

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)
RPIA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ribose 5-phosphate isomerase deficiency
  • ribose-5-p isomerase deficiency
causalgia
  • complex regional pain syndrome, type ii
mononeuropathy
  • mononeuropathies
- elite association - COSMIC cancer census association via MalaCards
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 3 4 22 64
  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 22 64
  3. 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 46 64
  4. 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 46 64
  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) 3 22 64

Products for RPIA Gene

Sources for RPIA Gene

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