catalog number :
MBS144004
products type :
Recombinant Protein
products full name :
Recombinant Human Hypoxanthine-Guanine Phosphoribosyltransferase
products short name :
Hypoxanthine-Guanine Phosphoribosyltransferase
products name syn :
HPRT1 Human; Hypoxanthine-Guanine Phosphoribosyltransferase Human Recombinant; Hypoxanthine-Guanine Phosphoribosyltransferase; EC 2.4.2.8; HGPRT; HGPRTase; HPRT; HPRT1
other names :
hypoxanthine-guanine phosphoribosyltransferase; Hypoxanthine-guanine phosphoribosyltransferase; hypoxanthine-guanine phosphoribosyltransferase; HGPRTase; hypoxanthine phosphoribosyltransferase 1
products gene name :
HPRT1
other gene names :
HPRT1; HPRT1; HPRT; HGPRT; HPRT; HGPRT; HGPRTase
uniprot entry name :
HPRT_HUMAN
sequence :
MGSSHHHHHH SSGLVPRGSH MATRSPGVVI SDDEPGYDLD LFCIPNHYAE DLERVFIPHG LIMDRTERLA RDVMKEMGGH HIVALCVLKG GYKFFADLLD YIKALNRNSD RSIPMTVDFI RLKSYCNDQS TGDIKVIGGD DLSTLTGKNV LIVEDIIDTG KTMQTLLSLV RQYNPKMVKV ASLLVKRTPR SVGYKPDFVG FEIPDKFVVG YALDYNEYFR DLNHVCVISE TGKAKYKA.
purity :
Greater than 95.0% as determined by SDS-PAGE.
form :
HPRT1 Human solution containing 20mM Tris HCL pH-8, & 20% glycerol. Sterile filtered colorless solution.
concentration :
0.5 mg/ml
storage stability :
HPRT1 Human although stable at 4 degree C for 1 week, should be stored desiccated below -18 degree C. Please prevent freeze thaw cycles.
products categories :
ENZYMES; Enzymes; Transferase
products description :
Description: HPRT1 Recombinant Human produced in E Coli is a single, non-glycosylated polypeptide chain containing 238 amino acids (1-218 a.a.) and having a molecular mass of 26.7 kDa. The HPRT1 is fused to 20 amino acid His-Tag at N-terminus and purified by proprietary chromatographic techniques. Introduction: HPRT1 has a main part in the generation of purine nucleotides through the purine salvage pathway. HPRT1 primarily functions to salvage purines from degraded DNA to renewed purine synthesis. Therefore, it performs as a catalyst in the reaction between guanine and phosphoribosyl pyrophosphate to form GMP.
ncbi acc num :
NP_000185.1
ncbi gb acc num :
NM_000194.2
ncbi mol weight :
24,579 Da
ncbi pathways :
Drug Metabolism - Other Enzymes Pathway (83033); Drug Metabolism - Other Enzymes Pathway (428); Metabolic Pathways (132956); Metabolism Pathway (477135); Metabolism Of Nucleotides Pathway (106263); Nucleotide Metabolism Pathway (198876); Purine Metabolism Pathway (82944); Purine Metabolism Pathway (106265); Purine Metabolism Pathway (307); Purine Salvage Pathway (106273)
ncbi summary :
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 summary :
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; Nucleotide Metabolism - purine; EC 2.4.2.8; Transferase; Cell development/differentiation. Chromosomal Location of Human Ortholog: Xq26.1. Cellular Component: cytoplasm; cytosol. Molecular Function: protein binding; protein homodimerization activity; magnesium ion binding; nucleotide binding; hypoxanthine phosphoribosyltransferase activity. 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