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Description for Protein PRPS1

phosphoribosyl pyrophosphate synthetase 1
5 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/0)
(platelet: 4; secretome: 1)
Summary:
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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.7.6.1
KEGG - Orthology:
K00948
KEGG - Pathway(s):
hsa00030; hsa00230; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Ribose phosphate pyrophosphokinase I; PPRibP; PRS-I
Approved Symbol:
PRPS1
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 4
Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Gout, PRPS-related(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02413 Entrez Gene ID: 5631 OMIM ID: 311850 Swissprot Accession: P60891;