PRPS1

PRPS1 is 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.

Full Name

Phosphoribosyl Pyrophosphate Synthetase 1

Function

Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.

Biological Process

5-phosphoribose 1-diphosphate biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Hypoxanthine biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Nervous system developmentManual Assertion Based On ExperimentIMP:UniProtKB
PhosphorylationIEA:UniProtKB-KW
Purine nucleobase metabolic processManual Assertion Based On ExperimentIMP:UniProtKB
Purine nucleotide biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB
Pyrimidine nucleotide biosynthetic process1 PublicationNAS:UniProtKB
Ribonucleoside monophosphate biosynthetic processIEA:InterPro
Urate biosynthetic processManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

cytoplasm
cytosol
ribose phosphate diphosphokinase complex

Involvement in disease

Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity):
Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis.
Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5):
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. 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.
ARTS syndrome (ARTS):
A disorder characterized by intellectual disability, 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.
Deafness, X-linked, 1 (DFNX1):
A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss.