LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions
After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Identifier
rs2494732
In Other Studies (IDs)
1274
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

Homologs in model organisms

Mus musculus
Akt1
Rattus norvegicus
Akt1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Akt1
GenAge human genes
  • This gene is present as AKT1
CellAge
  • This gene is present as AKT1

References

Di Cianni et al. (2013)

Other variants which are also part of this study