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HPRT1 Converts guanine to guanosine monophosphate, and hypoxanthine to inosine monophosphate. Transfers the 5- phosphoribosyl group from 5-phosphoribosylpyrophosphate onto the purine. Plays a central role in the generation of purine nucleotides through the purine salvage pathway. Defects in HPRT1 are the cause of Lesch-Nyhan syndrome (LNS). LNS is characterized by complete lack of enzymatic activity that results in hyperuricemia, choreoathetosis, mental retardation, and compulsive self-mutilation. Defects in HPRT1 are the cause of gout HPRT-related (GOUT-HPRT); also known as HPRT-related gout or Kelley-Seegmiller syndrome. Gout is characterized by partial enzyme activity and hyperuricemia. Belongs to the purine/pyrimidine phosphoribosyltransferase family. Note: This description may include information from UniProtKB.
Protein type: Cell development/differentiation; EC; Nucleotide Metabolism - purine; Transferase; Xenobiotic Metabolism - drug metabolism - other enzymes
Chromosomal Location of Human Ortholog: Xq26.2-q26.3
Cellular Component: cytoplasm; cytosol
Molecular Function: hypoxanthine phosphoribosyltransferase activity; identical protein binding; magnesium ion binding; nucleotide binding; protein binding; protein homodimerization activity
Biological Process: adenine salvage; central nervous system neuron development; cerebral cortex neuron differentiation; cytolysis; dendrite morphogenesis; dopamine metabolic process; GMP catabolic process; grooming behavior; guanine salvage; hypoxanthine metabolic process; hypoxanthine salvage; IMP metabolic process; IMP salvage; locomotory behavior; lymphocyte proliferation; positive regulation of dopamine metabolic process; protein homotetramerization; purine nucleotide biosynthetic process; purine ribonucleoside salvage; purine-containing compound salvage; response to amphetamine; striatum development
Disease: Kelley-seegmiller Syndrome; Lesch-nyhan Syndrome
Reference #:  P00492 (UniProtKB)
Alt. Names/Synonyms: HGPRT; HGPRTase; HPRT; HPRT1; hypoxanthine phosphoribosyltransferase 1; Hypoxanthine-guanine phosphoribosyltransferase
Gene Symbols: HPRT1
Molecular weight: 24,579 Da
Basal Isoelectric point: 6.21  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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