catalog number :
MBS203544
products type :
Recombinant Protein
products full name :
HPRT1, 1-218aa, Human, His tag, E Coli
products short name :
HPRT1
products name syn :
HGPRT; HGPRTase; HPRT; Hypoxanthine-guanine phosphoribosyltransferase HPRT 1; HPRT1; Hypoxanthine guanine phosphoribosyltransferase; Hypoxanthine phosphoribosyltransferase 1 (Lesch Nyhan syndrome); Hypoxanthine phosphoribosyltransferase 1.
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 :
> 95% by SDS-PAGE
form :
Liquid. In 20mM Tris-HCl buffer (pH 8.0) containing, 20% glycerol
concentration :
0.5mg/ml (determined by Bradford assay)
storage stability :
Can be stored at 4 degree C short term (1-2 weeks). For long term storage, aliquot and store at -20 degree C or -70 degree C. Avoid repeated freezing and thawing cycles.
tested application :
SDS-PAGE
other info1 :
Antigen Species: Human. Tag: His-tag
other info2 :
Expression System: E Coli
products categories :
Enzymes & Proteases
products description :
Hypoxanthine-guanine phosphoribosyltransferase, also known as HPRT1 has a central role in the generation of purine nucleotides through the purine salvage pathway. The enzyme primarily functions to salvage purines from degraded DNA to renewed purine synthesis. In this role, it acts as a catalyst in the reaction between guanine and phosphoribosyl pyrophosphate to form GMP. Recombinant human HPRT1, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.
products references :
Hladnik u., et al. (2008) Arch Neurol. 65(9):1240-3. Sculley DG., et al. (1992) Hum Genet. 90(3):195-207191.
ncbi gb acc num :
NM_000194.2
ncbi mol weight :
26.7 kDa (238aa), confirmed by MALDI-TOF
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: Cell development/differentiation; Nucleotide Metabolism - purine; Xenobiotic Metabolism - drug metabolism - other enzymes; EC 2.4.2.8; Transferase. Chromosomal Location of Human Ortholog: Xq26.1. Cellular Component: cytoplasm; cytosol. Molecular Function: protein binding; protein homodimerization activity; nucleotide binding; magnesium ion binding; hypoxanthine phosphoribosyltransferase activity. Biological Process: hypoxanthine metabolic process; IMP salvage; cytolysis; locomotory behavior; adenine salvage; dopamine metabolic process; purine salvage; cerebral cortex neuron differentiation; protein homotetramerization; IMP metabolic process; hypoxanthine salvage; central nervous system neuron development; grooming behavior; lymphocyte proliferation; striatum development; GMP salvage; nucleobase, nucleoside and nucleotide metabolic process; 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