Recombinant Human Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT1)
Beta LifeScience
SKU/CAT #: BLC-07040P
Greater than 90% as determined by SDS-PAGE.
Recombinant Human Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT1)
Beta LifeScience
SKU/CAT #: BLC-07040P
Regular price
$58500
$585.00
Sale price$34900
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Product Overview
Description | Recombinant Human Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT1) is produced by our E.coli expression system. This is a full length protein. |
Purity | Greater than 90% as determined by SDS-PAGE. |
Uniprotkb | P00492 |
Target Symbol | HPRT1 |
Species | Homo sapiens (Human) |
Expression System | E.coli |
Tag | Tag-Free |
Target Protein Sequence | ATRSPGVVISDDEPGYDLDLFCIPNHYAEDLERVFIPHGLIMDRTERLARDVMKEMGGHHIVALCVLKGGYKFFADLLDYIKALNRNSDRSIPMTVDFIRLKSYCNDQSTGDIKVIGGDDLSTLTGKNVLIVEDIIDTGKTMQTLLSLVRQYNPKMVKVASLLVKRTPRSVGYKPDFVGFEIPDKFVVGYALDYNEYFRDLNHVCVISETGKAKYKA |
Expression Range | 2-218aa |
Protein Length | Full Length of Mature Protein |
Mol. Weight | 24.6 kDa |
Research Area | Metabolism |
Form | Liquid or Lyophilized powder |
Buffer | Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0. |
Reconstitution | Briefly centrifuged the vial prior to opening to bring the contents to the bottom. Reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL. It is recommended to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. The default final concentration of glycerol is 50%. |
Storage | 1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C. |
Notes | Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week. |
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 | |
Associated Diseases | Lesch-Nyhan syndrome (LNS); Gout HPRT-related (GOUT-HPRT) |
Gene Functions References
- 75% of Hypoxanthine-guanine phosphoribosyltransferase (HPRT)-deficiency carrier females presented skewed X chromosome inactivation (XCI) . Moreover, skewed XCI is significantly more frequent in Lesch-Nyhan disease (LND) carriers (83%) than in Lesch-Nyhan variant (LNV, 0-50%, depending on the phenotype severity). 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