NP_000185.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
hypoxanthine-guanine phosphoribosyltransferase
NCBI Official Synonym Full Names
hypoxanthine phosphoribosyltransferase 1
NCBI Official Synonym Symbols
NCBI Protein Information
hypoxanthine-guanine phosphoribosyltransferase
UniProt Protein Name
Hypoxanthine-guanine phosphoribosyltransferase
UniProt Synonym Gene Names
UniProt Entry Name
HPRT_HUMAN
NCBI Summary for HPRT1
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]
UniProt Comments for HPRT1
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.
Protein type: Xenobiotic Metabolism - drug metabolism - other enzymes; Transferase; Cell development/differentiation; EC 2.4.2.8; Nucleotide Metabolism - purine
Chromosomal Location of Human Ortholog: Xq26.1
Cellular Component: cytoplasm; cytosol
Molecular Function: protein binding; protein homodimerization activity; magnesium ion binding; hypoxanthine phosphoribosyltransferase activity; nucleotide binding
Biological Process: hypoxanthine metabolic process; IMP salvage; cytolysis; adenine salvage; locomotory behavior; dopamine metabolic process; purine salvage; protein homotetramerization; cerebral cortex neuron differentiation; IMP metabolic process; hypoxanthine salvage; central nervous system neuron development; grooming behavior; lymphocyte proliferation; striatum development; nucleobase, nucleoside and nucleotide metabolic process; GMP salvage; dendrite morphogenesis; response to amphetamine; purine nucleotide biosynthetic process; purine base metabolic process; GMP catabolic process; positive regulation of dopamine metabolic process; purine ribonucleoside salvage; guanine salvage
Disease: Kelley-seegmiller Syndrome; Lesch-nyhan Syndrome
Product References and Citations for anti-HPRT1 antibody
Garcia, M.G., et al. Nucleosides Nucleotides Nucleic Acids 29 (4-6), 301-305 (2010) : Torres, R.J., et al. Nucleosides Nucleotides Nucleic Acids 29 (4-6), 295-300 (2010) : Yamada, Y., et al. Nucleosides Nucleotides Nucleic Acids 29 (4-6), 291-294 (2010) : Zampieri, M., et al. Mech. Ageing Dev. 131(2):89-95(2010) Kudo, M., et al. Drug Metab. Pharmacokinet. 24(6):557-564(2009)
Research Articles on HPRT1
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Products associated with anti-HPRT1 antibody
Pathways associated with anti-HPRT1 antibody
Diseases associated with anti-HPRT1 antibody
Organs/Tissues associated with anti-HPRT1 antibody
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