RPIA Gene - Ribose-5-Phosphate Isomerase A
Key enzyme in the pentose phosphate pathway and nucleotide metabolism
Gene Information Card
| Symbol | RPIA |
|---|---|
| Full Name | Ribose-5-Phosphate Isomerase A |
| Gene Type | protein-coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 22934 ncbi.nlm.nih.gov/gene/22934 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | P49247 |
| OMIM ID | 180430 |
| HGNC ID | 10297 |
| Aliases | RPI, RPI1, RPIA1 |
Description
The RPIA gene encodes ribose-5-phosphate isomerase A, an enzyme that catalyzes the interconversion of ribose-5-phosphate and ribulose-5-phosphate in the pentose phosphate pathway. This reaction is essential for the production of ribose-5-phosphate, a precursor for nucleotide biosynthesis, and for the generation of NADPH. Mutations in RPIA are associated with ribose-5-phosphate isomerase deficiency, a rare autosomal recessive disorder affecting the central nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ribose-5-Phosphate Isomerase Deficiency | Loss-of-function mutations in RPIA impair the conversion of ribulose-5-phosphate to ribose-5-phosphate, leading to accumulation of ribitol and arabitol, and neurological symptoms including leukoencephalopathy and psychomotor retardation. | OMIM #180430; ClinVar; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Heart | 6.8 | Medium |
| Skeletal Muscle | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 10.1 | Medium expression |
| HepG2 | 9.5 | Medium expression |
| K562 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.149G>A (p.Arg50Gln) | Missense | Rare | Loss of function; reduced enzyme activity |
| c.458C>T (p.Pro153Leu) | Missense | Rare | Loss of function; associated with ribose-5-phosphate isomerase deficiency |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein product |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish enzymatic activity, leading to substrate accumulation and disease.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ribose-5-phosphate isomerase activity (GO:0004751) | • pentose-phosphate shunt (GO:0009052) |
| • cytosol (GO:0005829) | • cytoplasm (GO:0005737) |
Pathways
• Pentose phosphate pathway (non-oxidative branch) - Reactome R-HSA-71336
• Metabolism of carbohydrates - Reactome R-HSA-71387
Protein Summary
Ribose-5-phosphate isomerase A is a 271-amino acid protein that functions as a homodimer. It catalyzes the reversible isomerization of ribose-5-phosphate and ribulose-5-phosphate. The enzyme is ubiquitously expressed, with highest activity in tissues with high nucleotide synthesis demand. Deficiency leads to accumulation of polyols and neurological impairment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
