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Protein

Ribose-5-phosphate isomerase

Gene

RPIA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Pathwayi

GO - Molecular functioni

  • monosaccharide binding Source: Ensembl
  • ribose-5-phosphate isomerase activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Enzyme and pathway databases

ReactomeiREACT_1859. Pentose phosphate pathway (hexose monophosphate shunt).
UniPathwayiUPA00115; 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
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:10297. RPIA.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351A → V in RPID. 1 Publication
VAR_019122

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi608611. phenotype.
PharmGKBiPA34659.

Polymorphism and mutation databases

BioMutaiRPIA.
DMDMi156637353.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 311311Ribose-5-phosphate isomerasePRO_0000158521Add
BLAST

Proteomic databases

MaxQBiP49247.
PaxDbiP49247.
PRIDEiP49247.

PTM databases

PhosphoSiteiP49247.

Expressioni

Gene expression databases

BgeeiP49247.
CleanExiHS_RPIA.
GenevestigatoriP49247.

Organism-specific databases

HPAiHPA042620.
HPA057954.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ATPAF2Q8N5M13EBI-744831,EBI-1166928
CENPPQ6IPU03EBI-744831,EBI-10250303
FOXP2Q75MZ53EBI-744831,EBI-10255915
GORASP2Q9H8Y84EBI-744831,EBI-739467
PCMT1P220613EBI-744831,EBI-353343
PTPN11Q061244EBI-744831,EBI-297779
RNF208Q9H0X63EBI-744831,EBI-751555
STK16O757164EBI-744831,EBI-749295
TXN2Q997573EBI-744831,EBI-2932492
WDYHV1Q96HA84EBI-744831,EBI-741158

Protein-protein interaction databases

BioGridi116594. 22 interactions.
IntActiP49247. 14 interactions.
MINTiMINT-1440254.
STRINGi9606.ENSP00000283646.

Structurei

3D structure databases

ProteinModelPortaliP49247.
SMRiP49247. Positions 79-308.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0120.
GeneTreeiENSGT00390000004352.
HOGENOMiHOG000276369.
HOVERGENiHBG017746.
InParanoidiP49247.
KOiK01807.
OMAiGACHVQE.
OrthoDBiEOG7V1FS4.
PhylomeDBiP49247.
TreeFamiTF105758.

Family and domain databases

HAMAPiMF_00170. Rib_5P_isom_A.
InterProiIPR004788. Ribose5P_isomerase_typA.
IPR020672. Ribose5P_isomerase_typA_subgr.
[Graphical view]
PANTHERiPTHR11934. PTHR11934. 1 hit.
PfamiPF06026. Rib_5-P_isom_A. 1 hit.
[Graphical view]
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 AAK95569.1 differs from that shown. Reason: Frameshift at position 24. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti207 – 2071D → V in L35035 (PubMed:7758956).Curated
Sequence conflicti239 – 2391L → V in L35035 (PubMed:7758956).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti135 – 1351A → V in RPID. 1 Publication
VAR_019122

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.3. human.

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. Positions 79-308.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116594. 22 interactions.
IntActiP49247. 14 interactions.
MINTiMINT-1440254.
STRINGi9606.ENSP00000283646.

PTM databases

PhosphoSiteiP49247.

Polymorphism and mutation databases

BioMutaiRPIA.
DMDMi156637353.

Proteomic databases

MaxQBiP49247.
PaxDbiP49247.
PRIDEiP49247.

Protocols and materials databases

DNASUi22934.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283646; ENSP00000283646; ENSG00000153574.
GeneIDi22934.
KEGGihsa:22934.
UCSCiuc002ste.3. human.

Organism-specific databases

CTDi22934.
GeneCardsiGC02P088991.
H-InvDBHIX0002249.
HGNCiHGNC:10297. RPIA.
HPAiHPA042620.
HPA057954.
MIMi180430. gene.
608611. phenotype.
neXtProtiNX_P49247.
PharmGKBiPA34659.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0120.
GeneTreeiENSGT00390000004352.
HOGENOMiHOG000276369.
HOVERGENiHBG017746.
InParanoidiP49247.
KOiK01807.
OMAiGACHVQE.
OrthoDBiEOG7V1FS4.
PhylomeDBiP49247.
TreeFamiTF105758.

Enzyme and pathway databases

UniPathwayiUPA00115; UER00412.
ReactomeiREACT_1859. Pentose phosphate pathway (hexose monophosphate shunt).

Miscellaneous databases

GenomeRNAii22934.
NextBioi43675.
PROiP49247.
SOURCEiSearch...

Gene expression databases

BgeeiP49247.
CleanExiHS_RPIA.
GenevestigatoriP49247.

Family and domain databases

HAMAPiMF_00170. Rib_5P_isom_A.
InterProiIPR004788. Ribose5P_isomerase_typA.
IPR020672. Ribose5P_isomerase_typA_subgr.
[Graphical view]
PANTHERiPTHR11934. PTHR11934. 1 hit.
PfamiPF06026. Rib_5-P_isom_A. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00021. rpiA. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of human ribose 5-phosphate isomerase (RPI) gene."
    Guo J.H., Yu L.
    Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas.
  3. "The ribose 5-phosphate isomerase-encoding gene is located immediately downstream from that encoding murine immunoglobulin kappa."
    Apel T.W., Scherer A., Adachi T., Auch D., Ayane M., Reth M.
    Gene 156:191-197(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 186-311.
    Tissue: B-cell.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy."
    Huck J.H.J., Verhoeven N.M., Struys E.A., Salomons G.S., Jakobs C., van der Knaap M.S.
    Am. J. Hum. Genet. 74:745-751(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RPID VAL-135.

Entry informationi

Entry nameiRPIA_HUMAN
AccessioniPrimary (citable) accession number: P49247
Secondary accession number(s): Q541P9, Q96BJ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 24, 2007
Last modified: May 27, 2015
This is version 136 of the entry and version 3 of the sequence. [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. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.