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PRPS1 Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. Defects in PRPS1 are the cause of phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity); also known as PRPS-related gout. It is a familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. Defects in PRPS1 are the cause of Charcot-Marie-Tooth disease X-linked recessive type 5 (CMTX5); also known as optic atrophy-polyneuropathy-deafness or Rosenberg-Chutorian syndrome. CMTX5 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. Defects in PRPS1 are the cause of ARTS syndrome (ARTS); also known as fatal ataxia X-linked with deafness and loss of vision. ARTS is a disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death. Defects in PRPS1 are the cause of deafness X-linked type 1 (DFNX1); also known as congenital sensorineural deafness X-linked 2 (DFN2). It is a form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. Belongs to the ribose-phosphate pyrophosphokinase family. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - pentose phosphate pathway; EC; Kinase, other; Nucleotide Metabolism - purine
Chromosomal Location of Human Ortholog: Xq22.3
Cellular Component: cytosol
Molecular Function: ATP binding; identical protein binding; protein binding; protein homodimerization activity; ribose phosphate diphosphokinase activity
Biological Process: 5-phosphoribose 1-diphosphate biosynthetic process; hypoxanthine biosynthetic process; nervous system development; purine base metabolic process; purine nucleotide biosynthetic process
Disease: Arts Syndrome; Charcot-marie-tooth Disease, X-linked Recessive, 5; Phosphoribosylpyrophosphate Synthetase Superactivity
Reference #:  P60891 (UniProtKB)
Alt. Names/Synonyms: ARTS; CMTX5; DFN2; DFNX1; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); KIAA0967; Phosphoribosyl pyrophosphate synthase I; phosphoribosyl pyrophosphate synthetase 1; PPRibP; PRPS1; PRS-I; PRSI; Ribose-phosphate pyrophosphokinase 1
Gene Symbols: PRPS1
Molecular weight: 34,834 Da
Basal Isoelectric point: 6.51  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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