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: Xenobiotic Metabolism - drug metabolism - other enzymes; Nucleotide Metabolism - purine; Transferase; Cell development/differentiation; EC 188.8.131.52
Cellular Component: cytoplasm; cytosol
Molecular Function: protein binding; protein homodimerization activity; nucleotide binding; hypoxanthine phosphoribosyltransferase activity; magnesium ion binding
Biological Process: grooming behavior; hypoxanthine metabolic process; lymphocyte proliferation; IMP salvage; striatum development; GMP salvage; nucleobase, nucleoside and nucleotide metabolic process; cytolysis; dendrite morphogenesis; response to amphetamine; adenine salvage; locomotory behavior; purine nucleotide biosynthetic process; dopamine metabolic process; purine salvage; purine base metabolic process; protein homotetramerization; cerebral cortex neuron differentiation; positive regulation of dopamine metabolic process; GMP catabolic process; IMP metabolic process; hypoxanthine salvage; purine ribonucleoside salvage; guanine salvage; central nervous system neuron development
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.