Recombinant Human HGPRT Protein (N-6His)

Name: Recombinant Human HGPRT Protein (N-6His)
Brand: Beta LifeScience
SKU: BL-1313NP
Availability: InStock

BL-1313NP: Greater than 85% as determined by reducing SDS-PAGE. (QC verified)

Collections: All products, High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Hypoxanthine-Guanine Phosphoribosyltransferase is produced by our E.coli expression system and the target gene encoding Met1-Ala218 is expressed with a 6His tag at the N-terminus.
Accession	P00492
Synonym	Hypoxanthine-Guanine Phosphoribosyltransferase; HGPRT; HGPRTase; HPRT1; HPRT
Gene Background	Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) has an important role in the generation of purine nucleotides through the purine salvage pathway. HPRT1 functions to salvage purines from degraded DNA to renewed purine synthesis, it acts as a catalyst in the reaction between guanine and phosphoribosyl pyrophosphate to form GMP.
Molecular Mass	27.79 KDa
Apmol Mass	29 KDa, reducing conditions
Formulation	Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 250mM NaCl, 50% Glycerol, pH8.0.
Endotoxin	Less than 0.1 ng/µg (1 EU/µg) as determined by LAL test.
Purity	Greater than 85% as determined by reducing SDS-PAGE. (QC verified)
Biological Activity	Not tested
Reconstitution
Storage	Store at ≤-70°C, stable for 6 months after receipt. Store at ≤-70°C, stable for 3 months under sterile conditions after opening. Please minimize freeze-thaw cycles.
Shipping	The product is shipped on dry ice/polar packs. Upon receipt, store it immediately at the temperature listed below.
Usage	For Research Use Only

Target Details

Target Function	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.
Subcellular Location	Cytoplasm.
Protein Families	Purine/pyrimidine phosphoribosyltransferase family
Database References	HGNC: 5157 OMIM: 300322 KEGG: hsa:3251 STRING: 9606.ENSP00000298556 UniGene: PMID: 28904386 mutation in the human HPRT1 gene and the Lesch-Nyhan disease PMID: 29185864 Lesch-Nyhan disease in two families from Chiloe Island with mutations in the HPRT1 gene PMID: 28524722 The results suggest that no singular distal regulatory element is required for HPRT1 expression and that distal mutations are unlikely to contribute substantially to Lesch-Nyhan syndrome burden. PMID: 28712454 product release from these HsHGPRT and PfHGXPRT PMID: 27404508 A missense mutation in exon 6 of the coding region of the HPRT1 gene contributes to Lesch-Nyhan Syndrome. PMID: 27379977 A novel duplication mutation (c.372dupT, c.372_374 TTT > c.372_375 TTTT) was identified in exon 4 of the HPRT1, which causes aberrant splicing. PMID: 27754763 Three novel independent mutations in the coding region of the HPRT1 gene are responsible for the HPRT1 deficiency. PMID: 28045594 HPRTYale variant was identified as pathogenic in a family affected with Lesch-Nyhan syndrome. PMID: 27420966 Pseudogene-free amplification of HPRT1 in quantitative reverse transcriptase polymerase chain reaction. PMID: 26050630 HPRT gene mutation assay demonstrated that surface chemical composition plays a significant role in silver nanoparticle toxicity. PMID: 26204901 Lesch-Nyhan Syndrome in a Family with a Deletion Followed by an Insertion within the HPRT1 Gene PMID: 25965333 A highly significant correlation between six metabolites and the HGprt deficiency was established, each of them providing an easily measurable marker of the disease. PMID: 25612837 HPRT mutations are not increased by systemic depleted uranium exposure. PMID: 25914368 13 novel mutations in Saudi Arabian HPRT-related hyperuricemia patients manifesting different levels of uric acid. PMID: 25136576 HPRT1 mutations in new Japanese families and PRPP concentration PMID: 24940672 Our studies suggest that the p.Leu68Pro mutation has a strong impact on PRPP binding and on stability of the active conformation. PMID: 24075303 In the study presented here, for the first time T-705/favipiravir absolutely depends on the cellular HGPRT enzyme to exert its anti-influenza virus activity in mammalian cells. PMID: 23907213 Molecular genetic testing revealed a new frameshift mutation in the HPRT1 gene causing Lesch-Nyhan syndrome in an Indian family. PMID: 22183764 study reports three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three Lesch-Nyhan syndrome affected male patients PMID: 23473102 Such protein-protein interactions with HPRT1 are predicted to be impaired for the long or short forms of ALDH16A1*2. PMID: 23348497 Identification of increased expression of the microRNA miR181a in HPRT-deficient human dopaminergic SH-SY5Y neuroblastoma cells. PMID: 22042773 The housekeeping gene HPRT regulates purinergic signaling in pluripotent human stem cells. This regulation occurs at least partly through aberrant P2Y1-mediated expression and signaling. PMID: 22331909 Mutations in Asian families with patients manifesting different clinical phenotypes, including rare cases of female subjects, by analyzing all nine exons of the HPRT gene, were identified. PMID: 22132982 These results confirm the extraordinary variety and complexity of mutations in HPRT deficiency. PMID: 22132984 Three HPRT1 mutations in Lesch-Nyhan families were identified but no mutation was identified in any patient in the analysis of PRPS1. PMID: 22132986 Report lack of any common mutation causing HPRT deficiency in Poland. PMID: 19016344 The study reports five novel independent mutations in the coding region of the HPRT gene from five unrelated male patients manifesting different clinical phenotypes associated with Lesch-Nyhan Syndrome. PMID: 21780909 Human hypoxanthine guanine phosphoribosyltransferase (HGPRT) catalyzes the phosphoribosylation of guanine and hypoxanthine, while Plasmodium falciparum HGPRT acts on xanthine as well. PMID: 21486037 dysregulated Wnt signaling and presenilin-1 expression together with impaired expression of dopaminergic transcription factors reveal broad pleitropic neuro-regulatory defects played by HPRT expression PMID: 21305049 The loss of the guanine effect in a cell line bearing a mutated inactive HGPRT, and the decreased potency of GUA in U87 cells silenced for HGPRT transcripts, demonstrates the role of the intracellular metabolism of GUA for growth-inhibitory effects. PMID: 20536392 the clinical features of ten patients from eight unrelated families with the c.143G>A mutation in HPRT1 were compared. PMID: 20981450 In four hyperuricemic patients with mild neurological abnormality, no mutations responsible for partial HPRT deficiency were identified in HPRT1. PMID: 20544509 The promoter region methylation status of these five HPRT deficient patients was similar to that of normal subjects. PMID: 20544511 Sequence analysis of DNA and RNA showed correction of the HPRT1 mutation. Random integration was not indicated after transfection of the mutant cells with an SDF comprised of green fluorescent protein (GFP) sequences are not found in human genomic DNA PMID: 19995283 Use of HPRT1 gene for validation studies of internal controls for expression studies in aging is reported. PMID: 20038437 hypoxanthine-guanine phosphoribosyltransferase PMID: 19672249 recurrent large Alu-mediated deletion associated with Lesch-Nyhan syndrome PMID: 11668636 High frequency of deletions at the hypoxanthine-guanine phosphoribosyltransferase locus in an ataxia-telangiectasia lymphoblastoid cell line irradiated with gamma-rays. PMID: 11714443 This report highlights the unusual occurrence of recurrent acute renal failure in a child with partial HPRT enzyme deficiency. PMID: 11891689 A comparative spectral analysis of somatic mutations at the HPRT reporter gene locus in healthy children revealed an age-specific decrease in large alterations and a corresponding increase in small alterations with increasing age. PMID: 12175903 HPRT and G6PD origins of replication that are functional in the active X chromosome are utilized even when the two genes are transcriptionally silent in the inactive X chromosome PMID: 12616531 In children with cancer there is no significant increase in background HPRT mutation frequency. PMID: 12874812 elevated HPRT mutation rates in a colon cancer cell line are caused by mutations in the MSH6 gene, and not in the POLD1 gene PMID: 14767555 how mutable and nonmutated amino acid residues in the HPRT monomer correlate with sequence conservation and predicted phenotypic effects PMID: 15146465 mutation of F36 residue in the core of the protein affects the stability of the enzyme PMID: 15178494 Mutation in the HPRT1 allele at the DNA and RNA levels in Lesch-Nyhan disease blastocyst. PMID: 15277709 summary of mutations in HPRT1 causing HPRT deficiency PMID: 15571220 a mutation of ATT to ACT (substitution of isoleucine to threonine) was found in codon 137 of HPRT in a patient with partial deficiency of the enzyme PMID: 15571222 analysis of exons of HPRT from the genomic DNA of Asian HPRT deficient families PMID: 15571223

FAQs

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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Recombinant Human HGPRT Protein (N-6His)

Recombinant Human HGPRT Protein (N-6His)

Product Overview

Target Details

FAQs