hprt-1

Caenorhabditis elegans

Enables identical protein binding activity. Predicted to be involved in hypoxanthine metabolic process and purine-containing compound salvage. Predicted to be located in cytosol. Human ortholog(s) of this gene implicated in HRPT-related hyperuricemia and Lesch-Nyhan syndrome. Is an ortholog of human PRTFDC1 (phosphoribosyl transferase domain containing 1).

xdh-1

Caenorhabditis elegans

Predicted to enable oxidoreductase activity. Predicted to be located in peroxisome. Expressed in excretory cell and head neurons. Human ortholog(s) of this gene implicated in several diseases, including Lesch-Nyhan syndrome; artery disease (multiple); and xanthinuria type I. Is an ortholog of human XDH (xanthine dehydrogenase).

HPT1

Saccharomyces cerevisiae

Dimeric hypoxanthine-guanine phosphoribosyltransferase; catalyzes the transfer of the phosphoribosyl portion of 5-phosphoribosyl-alpha-1-pyrophosphate to a purine base (either guanine or hypoxanthine) to form pyrophosphate and a purine nucleotide (either guanosine monophosphate or inosine monophosphate); mutations in the human homolog HPRT1 can cause Lesch-Nyhan syndrome and Kelley-Seegmiller syndrome

Hprt1

Homo sapiens

The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.[provided by RefSeq, Jun 2009]

Hprt1

Rattus norvegicus

Enables hypoxanthine phosphoribosyltransferase activity. Involved in cellular response to insulin stimulus; hypoxanthine metabolic process; and spermatogenesis. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Biomarker of hepatocellular carcinoma. Human ortholog(s) of this gene implicated in HRPT-related hyperuricemia and Lesch-Nyhan syndrome. Orthologous to human HPRT1 (hypoxanthine phosphoribosyltransferase 1); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3-Chloro-4-(dichloromethyl)-5-hydroxy-2(5H)-furanone.

Xdh

Rattus norvegicus

Enables several functions, including 2 iron, 2 sulfur cluster binding activity; molybdopterin cofactor binding activity; and oxidoreductase activity, acting on CH or CH2 groups. Involved in several processes, including cellular response to cytokine stimulus; purine nucleobase catabolic process; and purine ribonucleoside catabolic process. Located in extracellular space. Is active in cytosol and peroxisome. Used to study several diseases, including hypertension; hyperuricemia; interstitial nephritis; kidney failure (multiple); and renal fibrosis. Biomarker of several diseases, including cholestasis; liver disease (multiple); obesity; pancreatitis; and peritonitis. Human ortholog(s) of this gene implicated in several diseases, including Lesch-Nyhan syndrome; artery disease (multiple); chronic kidney disease; hyperuricemia; and xanthinuria type I. Orthologous to human XDH (xanthine dehydrogenase); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; INTERACTS WITH (+)-taxifolin; (R)-adrenaline; (R)-lipoic acid.