P49247 (RPIA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ribose-5-phosphate isomerase
EC=5.3.1.6

Alternative name(s):
Phosphoriboisomerase

Gene names

Name:	RPIA
Synonyms:	RPI

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	311 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Catalytic activity	D-ribose 5-phosphate = D-ribulose 5-phosphate.
Pathway	Carbohydrate degradation; pentose phosphate pathway; D-ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.
Involvement in disease	Defects in RPIA are the cause of 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. Ref.5
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.

Ontologies

Keywords
Disease	Disease mutation
Molecular function	Isomerase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	pentose-phosphate shunt, non-oxidative branch Non-traceable author statement. Source: UniProtKB
Cellular component	cytosol Traceable author statement. Source: Reactome
Molecular function	ribose-5-phosphate isomerase activity Non-traceable author statement Ref.3. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 311	311	Ribose-5-phosphate isomerase		PRO_0000158521
Natural variations
	Natural variant	135	1	A → V in RPID. Ref.5		VAR_019122
Experimental info
	Sequence conflict	207	1	D → V in L35035. Ref.3
	Sequence conflict	239	1	L → V in L35035. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P49247 [UniParc]. Last modified July 24, 2007. Version 3. Checksum: 4ED587A40F10223D	FASTA	311	33,269
	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

References

	« Hide 'large scale' referencesShow '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: 15489334] [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: 7758956] [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: 21269460] [Abstract] 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: 14988808] [Abstract] Cited for: VARIANT RPID VAL-135.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY050633 mRNA. Translation: AAK95569.1. Frameshift. BC015529 mRNA. Translation: AAH15529.2. L35035 mRNA. No translation available.
IPI	IPI00026513.
RefSeq	NP_653164.2. NM_144563.2.
UniGene	Hs.469264.
3D structure databases
ProteinModelPortal	P49247.
SMR	P49247. Positions 79-310.
ModBase	Search...
Protein-protein interaction databases
IntAct	P49247. 8 interactions.
MINT	MINT-1440254.
STRING	P49247.
Polymorphism databases
DMDM	156637353.
Proteomic databases
PRIDE	P49247.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000283646; ENSP00000283646; ENSG00000153574.
GeneID	22934.
KEGG	hsa:22934.
UCSC	uc002ste.1. human.
Organism-specific databases
CTD	22934.
GeneCards	GC02P088991.
HGNC	HGNC:10297. RPIA.
HPA	HPA042620.
MIM	180430. gene. 608611. phenotype.
neXtProt	NX_P49247.
PharmGKB	PA34659.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19034.
HOGENOM	HBG515603.
HOVERGEN	HBG017746.
InParanoid	P49247.
OMA	GGDPEYR.
OrthoDB	EOG4BVRV4.
PhylomeDB	P49247.
Enzyme and pathway databases
Reactome	REACT_474. Metabolism of carbohydrates.
Gene expression databases
ArrayExpress	P49247.
Bgee	P49247.
CleanEx	HS_RPIA.
Genevestigator	P49247.
GermOnline	ENSG00000153574. Homo sapiens.
Family and domain databases
InterPro	IPR004788. Ribose5P_isomerase_typA. IPR020672. Ribose5P_isomerase_typA_subgr. [Graphical view]
KO	K01807.
PANTHER	PTHR11934. RpiA. 1 hit.
Pfam	PF06026. Rib_5-P_isom_A. 1 hit. [Graphical view]
TIGRFAMs	TIGR00021. RpiA. 1 hit.
ProtoNet	Search...
Other
NextBio	43675.
SOURCE	Search...

Entry information

Entry name

RPIA_HUMAN

Accession

Primary (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:	January 25, 2012
This is version 103 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.