LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Dutch
- Study Design
- 1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
- Conclusions
- As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
- Identifier
- AKT1
- In Other Studies (IDs)
- 872
- Cytogenetic Location
- 14q32.33
- UCSC Genome Browser
- View 14q32.33 on the UCSC genome browser
Gene details
- HGNC symbol
- AKT1
- Aliases
- AKT; PKB; RAC; CWS6; PRKBA; PKB-ALPHA; RAC-ALPHA
- Common name
- AKT serine/threonine kinase 1
- Description
- The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]
- Other longevity studies of this gene
- 9
- OMIM
- 164730
- Ensembl
- ENSG00000142208
- UniProt/Swiss-Prot
- AKT1_HUMAN
- Entrez Gene
- 207
- UniGene
- 525622
- HapMap
- View on HapMap