LongevityMap Gene
Gene details
- HGNC symbol
- GPX4
- Aliases
- MCSP; SMDS; GPx-4; PHGPx; snGPx; GSHPx-4; snPHGPx
- Common name
- glutathione peroxidase 4
- Description
- The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016]
- Cytogenetic Location
- 19p13.3
- UCSC Genome Browser
- View 19p13.3 on the UCSC genome browser
- OMIM
- 138322
- Ensembl
- ENSG00000167468
- UniProt/Swiss-Prot
- GPX4_HUMAN
- Entrez Gene
- 2879
- UniGene
- 433951
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- gpx4b
- Danio rerio
- gpx4a
- Mus musculus
- Gpx4
- Rattus norvegicus
- Gpx4
- Saccharomyces cerevisiae
- HYR1
- Saccharomyces cerevisiae
- GPX1
- Schizosaccharomyces pombe
- gpx1
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Gpx4
- GenAge human genes
- This gene is present as GPX4
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Danish
- Study Design
- 38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.
- Conclusions
- No gene found associated with a functional phenotype showed a corresponding association with survival in the whole cohort. NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. No association with survival was reported in males for genes belonging to the pro-oxidant pathway here analyzed.
- Indentifier
- rs3746165
- Reference