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Hypoxanthine phosphoribosyltransferase 1

Hypoxanthine Phosphoribosyltransferase, HPRT, hypoxanthine-guanine phosphoribosyltransferase, HGPRT
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] (from NCBI)
Top mentioned proteins: CAN, ACID, HAD, POLYMERASE, GAPDH
Papers using Hypoxanthine Phosphoribosyltransferase antibodies
ENCODE whole-genome data in the UCSC Genome Browser: update 2012
Mallo Moises, In PLoS ONE, 2011
... Hprt locus by conventional cloning or InFusion cloning (Clontech; according to manual), linearized ...
Correlations between RNA and protein expression profiles in 23 human cell lines
Schwartz Thue W. et al., In International Journal of Endocrinology, 2008
... followed by the SV40 polyA signal was inserted into the HPRT locus through target homologous recombination.The double transgenic mice were backcrossed into ...
Digimouse: A 3D whole body mouse atlas from CT and cryosection data.
Cai Huaibin, In PLoS ONE, 2006
... Hprt locus is located on the X chromosome, thus mating of heterozygous PLB1Triple females with transgenic (hemizygous) males generated either ...
Tandem B1 Elements Located in a Mouse Methylation Center Provide a Target for de Novo DNA Methylation.
Freitag Michael, In PLoS ONE, 1998
... HPRT cDNA expression vector (Origene, catalog #TC120047) ...
Papers on Hypoxanthine Phosphoribosyltransferase
Establishment of correlation between in-silico and in-vitro test analysis against Leishmania HGPRT to inhibitors.
Das et al., Hājīpur, India. In Int J Biol Macromol, Feb 2016
Hypoxanthine Phosphoribosyltransferase (HGPRT; EC is a central enzyme in the purine recycling pathway of all protozoan parasites.
Appropriate real-time PCR reference genes for fluoride treatment studies performed in vitro or in vivo.
Bartlett et al., Cambridge, United States. In Arch Oral Biol, Feb 2016
DESIGN: Five candidate genes were evaluated: B2m, Eef1a1, Gapdh, Hprt and Tbp.
Multi-walled carbon nanotubes (NM401) induce ROS-mediated HPRT mutations in Chinese hamster lung fibroblasts.
Marcos et al., Barcelona, Spain. In Environ Res, Feb 2016
We have determined the ability of multi-walled carbon nanotubes (MWCNT, NM401), to induce mutations in the HPRT gene in Chinese hamster lung (V79) fibroblasts.
Consensus reference gene(s) for gene expression studies in human cancers: end of the tunnel visible?
Ksoo et al., Shillong, India. In Cell Oncol (dordr), Dec 2015
Secondly, we recommend that a combination of PPIA and either GAPDH, ACTB, HPRT and TBP, or appropriate combinations of two or three of these genes, should be employed in future studies, to ensure that results from different studies on different human cancers can be harmonized.
New investigations into the genotoxicity of cobalt compounds and their impact on overall assessment of genotoxic risk.
Ziemann et al., Kirkland, United States. In Regul Toxicol Pharmacol, Oct 2015
No biologically significant mutagenic responses were obtained in bacteria, Tk(+/-) or Hprt mutation tests.
Identification of valid endogenous control genes for determining gene expression in C6 glioma cell line treated with conditioned medium from adipose-derived stem cell.
Wink et al., Porto Alegre, Brazil. In Biomed Pharmacother, Oct 2015
β-actin (ACTB); glyceraldehyde-3-phosphate dehydrogenase (GAPDH); hypoxanthine-guanine phosphoribosyltransferase I (HPRT-1); TATA box binding protein (TBP) and beta-2-microglobulin (B2M) were evaluated by real-time reverse transcription PCR (RT-qPCR).
The human β-amyloid precursor protein: biomolecular and epigenetic aspects.
Nguyen, In Biomol Concepts, Mar 2015
These findings may provide new directions for investigating the role of APP in neuropathology associated with a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt) found in patients with Lesch-Nyhan syndrome (LNS) and its attenuated variants (LNVs).
MicroRNAs: tools of mechanistic insights and biological therapeutics discovery for the rare neurogenetic syndrome Lesch-Nyhan disease (LND).
Guibinga, San Diego, United States. In Adv Genet, 2014
In the current review, we highlight the role of miRNAs in Lesch-Nyhan disease (LND), a rare neurogenetic syndrome caused by mutations in the purine metabolic gene encoding the hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme.
Morin, a Bioflavonoid Suppresses Monosodium Urate Crystal-Induced Inflammatory Immune Response in RAW 264.7 Macrophages through the Inhibition of Inflammatory Mediators, Intracellular ROS Levels and NF-κB Activation.
Rasool et al., Vellore, India. In Plos One, 2014
The mRNA expression of pro-inflammatory cytokines (TNF-α, IL-1β, IL-6, and MCP-1), inflammatory enzymes (iNOS and COX-2), and NF-κBp65 was found downregulated in MSU crystal stimulated macrophage cells by morin treatment, however, the mRNA expression of hypoxanthine phospho ribosyl transferse (HPRT) was found to be increased.
Reference genes for reverse transcription quantitative PCR in canine brain tissue.
Penning et al., Utrecht, Netherlands. In Bmc Res Notes, 2014
RESULTS: Following the minimum information for publication of quantitative real-time PCR experiments precise guidelines, the expression of ten frequently used reference genes, namely YWHAZ, HMBS, B2M, SDHA, GAPDH, HPRT, RPL13A, RPS5, RPS19 and GUSB was evaluated in seven brain regions (frontal lobe, parietal lobe, occipital lobe, temporal lobe, thalamus, hippocampus and cerebellum) and whole brain of healthy dogs.
Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.
Jinnah et al., In Lancet Neurol, 2013
BACKGROUND: Lesch-Nyhan disease is a rare, X-linked, neurodevelopmental metabolic disorder that is caused by abnormalities in the levels of hypoxanthine-guanine phosphoribosyltransferase enzyme activity.
Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Bahn et al., Cambridge, United Kingdom. In J Proteome Res, 2012
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferase.
Friedmann et al., San Diego, United States. In Proc Natl Acad Sci U S A, 2012
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.
Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.
Fujimori et al., Japan. In Nucleosides Nucleotides Nucleic Acids, 2011
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.
HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation.
Marinaki et al., London, United Kingdom. In Nucleosides Nucleotides Nucleic Acids, 2011
These results confirm the extraordinary variety and complexity of mutations in HPRT deficiency.
Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.
Fujimori et al., Japan. In Nucleosides Nucleotides Nucleic Acids, 2011
Three HPRT1 mutations in Lesch-Nyhan families were identified but no mutation was identified in any patient in the analysis of PRPS1.
Oxidation reactions of cytosine DNA components by hydroxyl radical and one-electron oxidants in aerated aqueous solutions.
Cadet et al., Sherbrooke, Canada. In Acc Chem Res, 2010
In biology, GC --> AT transitions are the most common mutations in the genome of aerobic organisms, including the lacI gene in bacteria, lacI transgenes in rodents, and the HPRT gene in rodents and humans, so a more complete understanding of cytosine oxidation is an essential research goal.
Homologous recombination in human embryonic stem cells.
Thomson et al., Madison, United States. In Nat Biotechnol, 2003
Here we report an electroporation approach, based on the physical characteristics of human ES cells, that we used to successfully target HPRT1, the gene encoding hypoxanthine phosphoribosyltransferase-1 (HPRT1), and POU5F1, the gene encoding octamer-binding transcription factor 4 (Oct4; also known as POU domain, class 5, transcription factor 1 (POU5F1)).
Diploid azaguanine-resistant mutants of cultured human fibroblasts.
Demars et al., In Science, 1970
The most resistant mutant has little hypoxanthine-guanine phosphoribosyltransferase activity, is virtually unable to incorporate hypoxanthine (a normal substrate of the enzyme), and resembles fibroblasts cultured from boys with the Lesch-Nyhan syndrome.
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Wyngaarden et al., Brisbane, Australia. In Science, 1970
The urate pool and daily turnover of urate, together with the rate of incorporation of glycine into urate, were measured in three asymptomatic mothers who had sons with various degrees of deficiency of hypoxanthine-guanine phosphoribosyltransferase activity.
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