InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RPIA

Summary

InnateDB Protein

IDBP-60575.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RPIA

Protein Name

ribose 5-phosphate isomerase A

Synonyms

RPI;

Species

Homo sapiens

Ensembl Protein

ENSP00000283646

InnateDB Gene

IDBG-60573 (RPIA)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Disease Associations

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. {ECO:0000269PubMed:14988808}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004751	ribose-5-phosphate isomerase activity
GO:0030246	carbohydrate binding
GO:0048029	monosaccharide binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006098	pentose-phosphate shunt
GO:0009052	pentose-phosphate shunt, non-oxidative branch
GO:0019693	ribose phosphate metabolic process
GO:0044281	small molecule metabolic process