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Protein

Ribose-5-phosphate isomerase

Gene

RPIA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

D-ribose 5-phosphate = D-ribulose 5-phosphate.

Pathwayi: pentose phosphate pathway

This protein is involved in step 1 of the subpathway that synthesizes D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage).
Proteins known to be involved in this subpathway in this organism are:
  1. Ribose-5-phosphate isomerase (RPIA)
This subpathway is part of the pathway pentose phosphate pathway, which is itself part of Carbohydrate degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage), the pathway pentose phosphate pathway and in Carbohydrate degradation.

GO - Molecular functioni

GO - Biological processi

  • D-ribose metabolic process Source: GO_Central
  • pentose-phosphate shunt Source: Reactome
  • pentose-phosphate shunt, non-oxidative branch Source: GO_Central

Keywordsi

Molecular functionIsomerase

Enzyme and pathway databases

ReactomeiR-HSA-5659996 RPIA deficiency: failed conversion of R5P to RU5P
R-HSA-6791461 RPIA deficiency: failed conversion of RU5P to R5P
R-HSA-71336 Pentose phosphate pathway
UniPathwayi
UPA00115;UER00412

Names & Taxonomyi

Protein namesi
Recommended name:
Ribose-5-phosphate isomerase (EC:5.3.1.6)
Alternative name(s):
Phosphoriboisomerase
Gene namesi
Name:RPIA
Synonyms:RPI
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000153574.8
HGNCiHGNC:10297 RPIA
MIMi180430 gene
neXtProtiNX_P49247

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Ribose 5-phosphate isomerase deficiency (RPID)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:608611
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019122135A → V in RPID. 1 PublicationCorresponds to variant dbSNP:rs121918591EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi22934
MalaCardsiRPIA
MIMi608611 phenotype
OpenTargetsiENSG00000153574
Orphaneti440706 Ribose-5-P isomerase deficiency
PharmGKBiPA34659

Chemistry databases

DrugBankiDB01756 D-4-Phosphoerythronic Acid

Polymorphism and mutation databases

BioMutaiRPIA
DMDMi156637353

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001585211 – 311Ribose-5-phosphate isomeraseAdd BLAST311

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei52Omega-N-methylarginineCombined sources1
Modified residuei106PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiP49247
MaxQBiP49247
PaxDbiP49247
PeptideAtlasiP49247
PRIDEiP49247
ProteomicsDBi55976

PTM databases

iPTMnetiP49247
PhosphoSitePlusiP49247

Expressioni

Gene expression databases

BgeeiENSG00000153574 Expressed in 222 organ(s), highest expression level in bone marrow
CleanExiHS_RPIA
GenevisibleiP49247 HS

Organism-specific databases

HPAiHPA042620

Interactioni

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116594, 35 interactors
IntActiP49247, 20 interactors
MINTiP49247
STRINGi9606.ENSP00000283646

Structurei

3D structure databases

ProteinModelPortaliP49247
SMRiP49247
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3075 Eukaryota
COG0120 LUCA
GeneTreeiENSGT00390000004352
HOGENOMiHOG000276369
HOVERGENiHBG017746
InParanoidiP49247
KOiK01807
OMAiVAPMAYV
OrthoDBiEOG091G0FQ2
PhylomeDBiP49247
TreeFamiTF105758

Family and domain databases

CDDicd01398 RPI_A, 1 hit
HAMAPiMF_00170 Rib_5P_isom_A, 1 hit
InterProiView protein in InterPro
IPR037171 NagB/RpiA_transferase-like
IPR004788 Ribose5P_isomerase_typA
IPR020672 Ribose5P_isomerase_typA_subgr
PANTHERiPTHR11934 PTHR11934, 1 hit
PfamiView protein in Pfam
PF06026 Rib_5-P_isom_A, 1 hit
SUPFAMiSSF100950 SSF100950, 1 hit
TIGRFAMsiTIGR00021 rpiA, 1 hit

Sequencei

Sequence statusi: Complete.

P49247-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MQRPGPFSTL YGRVLAPLPG RAGGAASGGG GNSWDLPGSH VRLPGRAQSG
60 70 80 90 100
TRGGAGNTST SCGDSNSICP APSTMSKAEE AKKLAGRAAV ENHVRNNQVL
110 120 130 140 150
GIGSGSTIVH AVQRIAERVK QENLNLVCIP TSFQARQLIL QYGLTLSDLD
160 170 180 190 200
RHPEIDLAID GADEVDADLN LIKGGGGCLT QEKIVAGYAS RFIVIADFRK
210 220 230 240 250
DSKNLGDQWH KGIPIEVIPM AYVPVSRAVS QKFGGVVELR MAVNKAGPVV
260 270 280 290 300
TDNGNFILDW KFDRVHKWSE VNTAIKMIPG VVDTGLFINM AERVYFGMQD
310
GSVNMREKPF C
Length:311
Mass (Da):33,269
Last modified:July 24, 2007 - v3
Checksum:i4ED587A40F10223D
GO

Sequence cautioni

The sequence AAK95569 differs from that shown. Reason: Frameshift at position 24.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti207D → V in L35035 (PubMed:7758956).Curated1
Sequence conflicti239L → V in L35035 (PubMed:7758956).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019122135A → V in RPID. 1 PublicationCorresponds to variant dbSNP:rs121918591EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY050633 mRNA Translation: AAK95569.1 Frameshift.
BC015529 mRNA Translation: AAH15529.2
L35035 mRNA No translation available.
CCDSiCCDS2004.2
RefSeqiNP_653164.2, NM_144563.2
UniGeneiHs.469264

Genome annotation databases

EnsembliENST00000283646; ENSP00000283646; ENSG00000153574
GeneIDi22934
KEGGihsa:22934
UCSCiuc002ste.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY050633 mRNA Translation: AAK95569.1 Frameshift.
BC015529 mRNA Translation: AAH15529.2
L35035 mRNA No translation available.
CCDSiCCDS2004.2
RefSeqiNP_653164.2, NM_144563.2
UniGeneiHs.469264

3D structure databases

ProteinModelPortaliP49247
SMRiP49247
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116594, 35 interactors
IntActiP49247, 20 interactors
MINTiP49247
STRINGi9606.ENSP00000283646

Chemistry databases

DrugBankiDB01756 D-4-Phosphoerythronic Acid

PTM databases

iPTMnetiP49247
PhosphoSitePlusiP49247

Polymorphism and mutation databases

BioMutaiRPIA
DMDMi156637353

Proteomic databases

EPDiP49247
MaxQBiP49247
PaxDbiP49247
PeptideAtlasiP49247
PRIDEiP49247
ProteomicsDBi55976

Protocols and materials databases

DNASUi22934
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283646; ENSP00000283646; ENSG00000153574
GeneIDi22934
KEGGihsa:22934
UCSCiuc002ste.4 human

Organism-specific databases

CTDi22934
DisGeNETi22934
EuPathDBiHostDB:ENSG00000153574.8
GeneCardsiRPIA
H-InvDBiHIX0002249
HGNCiHGNC:10297 RPIA
HPAiHPA042620
MalaCardsiRPIA
MIMi180430 gene
608611 phenotype
neXtProtiNX_P49247
OpenTargetsiENSG00000153574
Orphaneti440706 Ribose-5-P isomerase deficiency
PharmGKBiPA34659
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3075 Eukaryota
COG0120 LUCA
GeneTreeiENSGT00390000004352
HOGENOMiHOG000276369
HOVERGENiHBG017746
InParanoidiP49247
KOiK01807
OMAiVAPMAYV
OrthoDBiEOG091G0FQ2
PhylomeDBiP49247
TreeFamiTF105758

Enzyme and pathway databases

UniPathwayi
UPA00115;UER00412

ReactomeiR-HSA-5659996 RPIA deficiency: failed conversion of R5P to RU5P
R-HSA-6791461 RPIA deficiency: failed conversion of RU5P to R5P
R-HSA-71336 Pentose phosphate pathway

Miscellaneous databases

GenomeRNAii22934
PROiPR:P49247
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153574 Expressed in 222 organ(s), highest expression level in bone marrow
CleanExiHS_RPIA
GenevisibleiP49247 HS

Family and domain databases

CDDicd01398 RPI_A, 1 hit
HAMAPiMF_00170 Rib_5P_isom_A, 1 hit
InterProiView protein in InterPro
IPR037171 NagB/RpiA_transferase-like
IPR004788 Ribose5P_isomerase_typA
IPR020672 Ribose5P_isomerase_typA_subgr
PANTHERiPTHR11934 PTHR11934, 1 hit
PfamiView protein in Pfam
PF06026 Rib_5-P_isom_A, 1 hit
SUPFAMiSSF100950 SSF100950, 1 hit
TIGRFAMsiTIGR00021 rpiA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRPIA_HUMAN
AccessioniPrimary (citable) accession number: P49247
Secondary accession number(s): Q541P9, Q96BJ6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 24, 2007
Last modified: November 7, 2018
This is version 168 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
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Main funding by: National Institutes of Health

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