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PRPS1
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis. Belongs to the ribose-phosphate pyrophosphokinase family. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Carbohydrate Metabolism - pentose phosphate pathway; EC 2.7.6.1; Kinase, other; Nucleotide Metabolism - purine |
| Chromosomal Location of Human Ortholog: Xq22.3 |
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Cellular Component:
cytosol
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Molecular Function:
ATP binding; identical protein binding; kinase activity; magnesium ion binding; protein binding; protein homodimerization activity; ribose phosphate diphosphokinase activity
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Biological Process:
5-phosphoribose 1-diphosphate biosynthetic process; hypoxanthine biosynthetic process; nervous system development; nucleoside metabolic process; phosphorylation; purine nucleobase metabolic process; purine nucleotide biosynthetic process; pyrimidine nucleotide biosynthetic process; ribonucleoside monophosphate biosynthetic process; urate biosynthetic process
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Disease: Arts Syndrome; Charcot-marie-tooth Disease, X-linked Recessive, 5; Deafness, X-linked 1; Phosphoribosylpyrophosphate Synthetase Superactivity
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Reference #:
P60891
(UniProtKB)
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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
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Gene Symbols: PRPS1
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Molecular weight:
34,834 Da
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Basal Isoelectric point:
6.51
Predict pI for various phosphorylation states
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