PRPS1 Back

phosphoribosyl pyrophosphate synthetase 1

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of PRPS1
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene.

Community Annotation of PRPS1 Add / Edit PRPS1: Annotations

No community annotations yet for PRPS1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PRPS1 is highly significantly mutated in
(none)
PRPS1 is significantly mutated in
(none)
PRPS1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PRPS1