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P49247 (RPIA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ribose-5-phosphate isomerase

EC=5.3.1.6
Alternative name(s):
Phosphoriboisomerase
Gene names
Name:RPIA
Synonyms:RPI
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length311 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

D-ribose 5-phosphate = D-ribulose 5-phosphate. HAMAP-Rule MF_00170

Pathway

Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1. HAMAP-Rule MF_00170

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the ribose 5-phosphate isomerase family.

Sequence caution

The sequence AAK95569.1 differs from that shown. Reason: Frameshift at position 24.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 311311Ribose-5-phosphate isomerase HAMAP-Rule MF_00170
PRO_0000158521

Natural variations

Natural variant1351A → V in RPID. Ref.6
VAR_019122

Experimental info

Sequence conflict2071D → V in L35035. Ref.3
Sequence conflict2391L → V in L35035. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P49247 [UniParc].

Last modified July 24, 2007. Version 3.
Checksum: 4ED587A40F10223D

FASTA31133,269
        10         20         30         40         50         60 
MQRPGPFSTL YGRVLAPLPG RAGGAASGGG GNSWDLPGSH VRLPGRAQSG TRGGAGNTST 

        70         80         90        100        110        120 
SCGDSNSICP APSTMSKAEE AKKLAGRAAV ENHVRNNQVL GIGSGSTIVH AVQRIAERVK 

       130        140        150        160        170        180 
QENLNLVCIP TSFQARQLIL QYGLTLSDLD RHPEIDLAID GADEVDADLN LIKGGGGCLT 

       190        200        210        220        230        240 
QEKIVAGYAS RFIVIADFRK DSKNLGDQWH KGIPIEVIPM AYVPVSRAVS QKFGGVVELR 

       250        260        270        280        290        300 
MAVNKAGPVV TDNGNFILDW KFDRVHKWSE VNTAIKMIPG VVDTGLFINM AERVYFGMQD 

       310 
GSVNMREKPF C 

« Hide

References

« Hide 'large scale' references
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[5]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY050633 mRNA. Translation: AAK95569.1. Frameshift.
BC015529 mRNA. Translation: AAH15529.2.
L35035 mRNA. No translation available.
RefSeqNP_653164.2. NM_144563.2.
UniGeneHs.469264.

3D structure databases

ProteinModelPortalP49247.
SMRP49247. Positions 79-308.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116594. 9 interactions.
IntActP49247. 8 interactions.
MINTMINT-1440254.
STRING9606.ENSP00000283646.

PTM databases

PhosphoSiteP49247.

Polymorphism databases

DMDM156637353.

Proteomic databases

PaxDbP49247.
PRIDEP49247.

Protocols and materials databases

DNASU22934.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000283646; ENSP00000283646; ENSG00000153574.
GeneID22934.
KEGGhsa:22934.
UCSCuc002ste.3. human.

Organism-specific databases

CTD22934.
GeneCardsGC02P088991.
H-InvDBHIX0002249.
HGNCHGNC:10297. RPIA.
HPAHPA042620.
MIM180430. gene.
608611. phenotype.
neXtProtNX_P49247.
PharmGKBPA34659.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0120.
HOGENOMHOG000276369.
HOVERGENHBG017746.
InParanoidP49247.
KOK01807.
OMAGACHVQE.
OrthoDBEOG7V1FS4.
PhylomeDBP49247.
TreeFamTF105758.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
UniPathwayUPA00115; UER00412.

Gene expression databases

ArrayExpressP49247.
BgeeP49247.
CleanExHS_RPIA.
GenevestigatorP49247.

Family and domain databases

HAMAPMF_00170. Rib_5P_isom_A.
InterProIPR004788. Ribose5P_isomerase_typA.
IPR020672. Ribose5P_isomerase_typA_subgr.
[Graphical view]
PANTHERPTHR11934. PTHR11934. 1 hit.
PfamPF06026. Rib_5-P_isom_A. 1 hit.
[Graphical view]
TIGRFAMsTIGR00021. rpiA. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi22934.
NextBio43675.
PROP49247.
SOURCESearch...

Entry information

Entry nameRPIA_HUMAN
AccessionPrimary (citable) accession number: P49247
Secondary accession number(s): Q541P9, Q96BJ6
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: July 24, 2007
Last modified: April 16, 2014
This is version 125 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM