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MGP002458

UniProt Annotations

Entry Information
Gene Namephosphoribosyl pyrophosphate synthetase 1
Protein EntryPRPS1_HUMAN
UniProt IDP60891
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P60891-1; Sequence=Displayed; Name=2; IsoId=P60891-2; Sequence=VSP_056028; Note=No experimental confirmation available.;
Catalytic ActivityATP + D-ribose 5-phosphate = AMP + 5-phospho- alpha-D-ribose 1-diphosphate.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420;
DiseaseARTS syndrome (ARTS) [MIM:301835]: 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. {ECO:0000269|PubMed:17701896}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCharcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]: 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. {ECO:0000269|PubMed:17701900}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseDeafness, X-linked, 1 (DFNX1) [MIM:304500]: A form of deafness characterized by progressive, severe-to-profound sensorineural hearing loss in males. Females manifest mild to moderate hearing loss. {ECO:0000269|PubMed:20021999}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseasePhosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]: Familial disorder characterized by excessive purine production, gout and uric acid urolithiasis. {ECO:0000269|PubMed:7593598, ECO:0000269|Ref.12}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationActivated by magnesium and inorganic phosphate.
FunctionCatalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
PathwayMetabolic intermediate biosynthesis; 5-phospho-alpha-D- ribose 1-diphosphate biosynthesis; 5-phospho-alpha-D-ribose 1- diphosphate from D-ribose 5-phosphate (route I): step 1/1.
SimilarityBelongs to the ribose-phosphate pyrophosphokinase family. {ECO:0000305}.
SubunitHomodimer. The active form is probably a hexamer composed of 3 homodimers. {ECO:0000269|PubMed:16939420}.
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