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P49247

- RPIA_HUMAN

UniProt

P49247 - RPIA_HUMAN

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Protein

Ribose-5-phosphate isomerase

Gene

RPIA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

Pathwayi

GO - Molecular functioni

  1. monosaccharide binding Source: Ensembl
  2. ribose-5-phosphate isomerase activity Source: UniProtKB

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. pentose-phosphate shunt Source: Reactome
  3. pentose-phosphate shunt, non-oxidative branch Source: Ensembl
  4. ribose phosphate metabolic process Source: Ensembl
  5. small molecule metabolic process Source: Reactome
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: Chromosome 2

Organism-specific databases

HGNCiHGNC:10297. RPIA.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. intracellular membrane-bounded organelle Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.

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.
ExpressionAtlasiP49247. baseline and differential.
GenevestigatoriP49247.

Organism-specific databases

HPAiHPA042620.

Interactioni

Protein-protein interaction databases

BioGridi116594. 14 interactions.
IntActiP49247. 8 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.
OMAiMDQLEMK.
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.

Polymorphism databases

DMDMi156637353.

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.
CCDSi CCDS2004.2.
RefSeqi NP_653164.2. NM_144563.2.
UniGenei Hs.469264.

3D structure databases

ProteinModelPortali P49247.
SMRi P49247. Positions 79-308.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116594. 14 interactions.
IntActi P49247. 8 interactions.
MINTi MINT-1440254.
STRINGi 9606.ENSP00000283646.

PTM databases

PhosphoSitei P49247.

Polymorphism databases

DMDMi 156637353.

Proteomic databases

MaxQBi P49247.
PaxDbi P49247.
PRIDEi P49247.

Protocols and materials databases

DNASUi 22934.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000283646 ; ENSP00000283646 ; ENSG00000153574 .
GeneIDi 22934.
KEGGi hsa:22934.
UCSCi uc002ste.3. human.

Organism-specific databases

CTDi 22934.
GeneCardsi GC02P088991.
H-InvDB HIX0002249.
HGNCi HGNC:10297. RPIA.
HPAi HPA042620.
MIMi 180430. gene.
608611. phenotype.
neXtProti NX_P49247.
PharmGKBi PA34659.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0120.
GeneTreei ENSGT00390000004352.
HOGENOMi HOG000276369.
HOVERGENi HBG017746.
InParanoidi P49247.
KOi K01807.
OMAi MDQLEMK.
OrthoDBi EOG7V1FS4.
PhylomeDBi P49247.
TreeFami TF105758.

Enzyme and pathway databases

UniPathwayi UPA00115 ; UER00412 .
Reactomei REACT_1859. Pentose phosphate pathway (hexose monophosphate shunt).

Miscellaneous databases

GenomeRNAii 22934.
NextBioi 43675.
PROi P49247.
SOURCEi Search...

Gene expression databases

Bgeei P49247.
CleanExi HS_RPIA.
ExpressionAtlasi P49247. baseline and differential.
Genevestigatori P49247.

Family and domain databases

HAMAPi MF_00170. Rib_5P_isom_A.
InterProi IPR004788. Ribose5P_isomerase_typA.
IPR020672. Ribose5P_isomerase_typA_subgr.
[Graphical view ]
PANTHERi PTHR11934. PTHR11934. 1 hit.
Pfami PF06026. Rib_5-P_isom_A. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR00021. rpiA. 1 hit.
ProtoNeti Search...

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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "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: October 29, 2014
This is version 130 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