Description: Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA. RefSeq Summary (NM_000581): The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants have been found for this gene. Pseudogenes of this locus have been identified on chromosomes X and 21. [provided by RefSeq, Aug 2017]. Transcript (Including UTRs) Position: hg19 chr3:49,394,609-49,395,791 Size: 1,183 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr3:49,394,821-49,395,711 Size: 891 Coding Exon Count: 2
aging and longevity Mette Soerensen , et al. Mechanisms of ageing and development 2009 130(5):308-14, The Mn-superoxide dismutase single nucleotide polymorphism rs4880 and the glutathione peroxidase 1 single nucleotide polymorphism rs1050450 are associated with aging and longevity in the oldest old., Mechanisms of ageing and development 2009 130(5):308-14.
[PubMed 19428448]
T allel associated with decreased mortality during old age (HR=0.93)
atherosclerosis, coronary Winter, J. P. et al. 2003, Glutathione peroxidase 1 genotype is associated with an increased risk of coronary artery disease., Coronary artery disease. 2003 Apr;14(2):149-53.
[PubMed 12655278]
We conclude that individuals possessing one or two ALA6 alleles appear to be at a modest increased risk of CAD. This observation merits further investigation in other patient populations.
atherosclerosis, generalized; vascular disease Hamanishi, T. et al. 2004, Functional variants in the glutathione peroxidase-1 (GPx-1) gene are associated with increased intima-media thickness of carotid arteries and risk of macrovascular diseases in japanese type 2 diabetic patients., Diabetes. 2004 Sep;53(9):2455-60.
[PubMed 15331559]
These results suggest that functional variants in the GPx-1 gene are associated with increased IMT of carotid arteries and risk of cardiovascular and peripheral vascular diseases in type 2 diabetic patients.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P07203
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000302 response to reactive oxygen species GO:0001659 temperature homeostasis GO:0001885 endothelial cell development GO:0002862 negative regulation of inflammatory response to antigenic stimulus GO:0006195 purine nucleotide catabolic process GO:0006629 lipid metabolic process GO:0006641 triglyceride metabolic process GO:0006749 glutathione metabolic process GO:0006915 apoptotic process GO:0006979 response to oxidative stress GO:0007605 sensory perception of sound GO:0008283 cell proliferation GO:0008631 intrinsic apoptotic signaling pathway in response to oxidative stress GO:0009410 response to xenobiotic stimulus GO:0009609 response to symbiotic bacterium GO:0009611 response to wounding GO:0009636 response to toxic substance GO:0009650 UV protection GO:0010269 response to selenium ion GO:0010332 response to gamma radiation GO:0014902 myotube differentiation GO:0018158 protein oxidation GO:0019372 lipoxygenase pathway GO:0033194 response to hydroperoxide GO:0033599 regulation of mammary gland epithelial cell proliferation GO:0034599 cellular response to oxidative stress GO:0040029 regulation of gene expression, epigenetic GO:0042311 vasodilation GO:0042542 response to hydrogen peroxide GO:0042744 hydrogen peroxide catabolic process GO:0043066 negative regulation of apoptotic process GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043403 skeletal muscle tissue regeneration GO:0043523 regulation of neuron apoptotic process GO:0043534 blood vessel endothelial cell migration GO:0045444 fat cell differentiation GO:0045454 cell redox homeostasis GO:0048741 skeletal muscle fiber development GO:0051450 myoblast proliferation GO:0051702 interaction with symbiont GO:0051897 positive regulation of protein kinase B signaling GO:0055114 oxidation-reduction process GO:0060047 heart contraction GO:0060055 angiogenesis involved in wound healing GO:0061136 regulation of proteasomal protein catabolic process GO:0090201 negative regulation of release of cytochrome c from mitochondria GO:0098869 cellular oxidant detoxification GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902176 negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway GO:1902905 positive regulation of supramolecular fiber organization
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