Hypoxanthine Phosphoribosyltransferase 1 (HPRT1)
[Edit]HGPRT; HGPRTase; HPRT; Lesch-Nyhan Syndrome; Hypoxanthine-guanine phosphoribosyltransferase
HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. The Lesch-Nyhan syndrome is particularly favorable for this purpose because no affected males reproduce, the diagnosis is unequivocal and cases come readily to attention, and particularly because heterozygosity can be demonstrated in females by the existence of 2 populations of cultured fibroblasts. There were few new mutations, contrary to the expected one-third. On the other hand, about one-half of heterozygous females were new mutations, as is predicted by theory.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA717Hu01 | Recombinant Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAA717Hu01 | Polyclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | WB; IHC; ICC; IP. |
MAA717Hu22 | Monoclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | WB; IHC; ICC; IP. | |
Assay Kits | SEA717Hu | ELISA Kit for Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA717Mu01 | Recombinant Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | Positive Control; Immunogen; SDS-PAGE; WB. |
RPA717Mu02 | Recombinant Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | Positive Control; Immunogen; SDS-PAGE; WB. | |
Antibodies | PAA717Mu01 | Polyclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | WB; IHC; ICC; IP. |
PAA717Mu02 | Polyclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | WB; IHC; ICC; IP. | |
Assay Kits | SEA717Mu | ELISA Kit for Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Hypoxanthine Phosphoribosyltransferase 1 (HPRT1) | ELISA Kit Customized Service Offer |
- "Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase."Proc. Natl. Acad. Sci. U.S.A. 80:477-481(1983) [PubMed] [Europe PMC] [Abstract]
- "Automated DNA sequencing of the human HPRT locus."Genomics 6:593-608(1990) [PubMed] [Europe PMC] [Abstract]
- "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
- "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme."J. Biol. Chem. 257:10978-10985(1982) [PubMed] [Europe PMC] [Abstract]
- "Fine structure of the human hypoxanthine phosphoribosyltransferase gene."Mol. Cell. Biol. 6:393-403(1986) [PubMed] [Europe PMC] [Abstract]
- "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
- "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
- "The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP."Cell 78:325-334(1994) [PubMed] [Europe PMC] [Abstract]
- "The 2.0 A structure of human hypoxanthine-guanine phosphoribosyltransferase in complex with a transition-state analog inhibitor."Nat. Struct. Biol. 6:588-593(1999) [PubMed] [Europe PMC] [Abstract]
- "Ternary complex structure of human HGPRTase, PRPP, Mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate binding."Protein Sci. 8:1023-1031(1999) [PubMed] [Europe PMC] [Abstract]
- "A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency."Hum. Genet. 90:195-207(1992) [PubMed] [Europe PMC] [Abstract]
- "The crystal structure of free human hypoxanthine-guanine phosphoribosyltransferase reveals extensive conformational plasticity throughout the catalytic cycle."J. Mol. Biol. 351:170-181(2005) [PubMed] [Europe PMC] [Abstract]
- "Inhibition of hypoxanthine-guanine phosphoribosyltransferase by acyclic nucleoside phosphonates: a new class of antimalarial therapeutics."J. Med. Chem. 52:4391-4399(2009) [PubMed] [Europe PMC] [Abstract]
- "Human hypoxanthine-guanine phosphoribosyltransferase."J. Biol. Chem. 258:6458-6460(1983) [PubMed] [Europe PMC] [Abstract]
- "Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome."J. Clin. Invest. 71:1331-1335(1983) [PubMed] [Europe PMC] [Abstract]
- "Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout."Proc. Natl. Acad. Sci. U.S.A. 80:870-873(1983) [PubMed] [Europe PMC] [Abstract]
- "Human hypoxanthine-guanine phosphoribosyltransferase. Structural alteration in a dysfunctional enzyme variant (HPRTMunich) isolated from a patient with gout."J. Biol. Chem. 259:27-30(1984) [PubMed] [Europe PMC] [Abstract]
- "Resolution of a missense mutant in human genomic DNA by denaturing gradient gel electrophoresis and direct sequencing using in vitro DNA amplification: HPRT Munich."Am. J. Hum. Genet. 42:726-734(1988) [PubMed] [Europe PMC] [Abstract]
- "Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint)."Gene 63:331-336(1988) [PubMed] [Europe PMC] [Abstract]
- "Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland)."Gene 68:85-91(1988) [PubMed] [Europe PMC] [Abstract]
- "Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor)."Hum. Genet. 79:39-43(1988) [PubMed] [Europe PMC] [Abstract]
- "Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects."J. Clin. Invest. 82:2164-2167(1988) [PubMed] [Europe PMC] [Abstract]
- "Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families."J. Inherit. Metab. Dis. 11:229-238(1988) [PubMed] [Europe PMC] [Abstract]
- "Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients."Acta Paediatr. Jpn. Overseas Ed. 31:303-313(1989) [PubMed] [Europe PMC] [Abstract]
- "Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville)."J. Biol. Chem. 264:520-525(1989) [PubMed] [Europe PMC] [Abstract]
- "Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome."J. Clin. Invest. 83:11-13(1989) [PubMed] [Europe PMC] [Abstract]
- "Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts."J. Clin. Invest. 84:342-346(1989) [PubMed] [Europe PMC] [Abstract]
- "Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA."Proc. Natl. Acad. Sci. U.S.A. 86:1919-1923(1989) [PubMed] [Europe PMC] [Abstract]
- "Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families."Genomics 7:235-244(1990) [PubMed] [Europe PMC] [Abstract]
- "Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures."Hum. Genet. 85:111-116(1990) [PubMed] [Europe PMC] [Abstract]
- "Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE)."J. Inherit. Metab. Dis. 13:692-700(1990) [PubMed] [Europe PMC] [Abstract]
- "Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency."Am. J. Hum. Genet. 48:951-958(1991) [PubMed] [Europe PMC] [Abstract]
- "Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects."Genomics 10:499-501(1991) [PubMed] [Europe PMC] [Abstract]
- "Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification."Hum. Genet. 87:688-692(1991) [PubMed] [Europe PMC] [Abstract]
- "Identification of two independent Japanese mutant HPRT genes using the PCR technique."Adv. Exp. Med. Biol. 309B:121-124(1991) [PubMed] [Europe PMC] [Abstract]
- "The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction."Hum. Genet. 88:695-696(1992) [PubMed] [Europe PMC] [Abstract]
- "Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency."Hum. Mol. Genet. 1:427-432(1992) [PubMed] [Europe PMC] [Abstract]
- "Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies."Hum. Mutat. 5:341-344(1995) [PubMed] [Europe PMC] [Abstract]
- "An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans."Hum. Genet. 99:8-10(1997) [PubMed] [Europe PMC] [Abstract]
- "The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations."Hum. Mutat. Suppl. 1:S88-S90(1998) [PubMed] [Europe PMC] [Abstract]
- "Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families."Nucleosides Nucleotides Nucleic Acids 23:1169-1172(2004) [PubMed] [Europe PMC] [Abstract]
- "Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations."Mol. Genet. Metab. 90:70-76(2007) [PubMed] [Europe PMC] [Abstract]
- "Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism."Nucleosides Nucleotides Nucleic Acids 29:291-294(2010) [PubMed] [Europe PMC] [Abstract]
- "Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration."Nucleosides Nucleotides Nucleic Acids 33:218-222(2014) [PubMed] [Europe PMC] [Abstract]