description
While AKT1 gene copy number, expression level and phosphorylation are often increased in cancer, only one low frequency point mutation has been repeatedly reported in cancer and functionally studied. This mutation represents a substitution of a glutamic acid residue with lysine at position 17 of AKT1, and acts by enabling AKT1 to bind PIP2. PIP2-bound AKT1 is phosphorylated by TORC2 complex and by PDPK1 that is always present at the plasma membrane, due to low affinity for PIP2. Therefore, E17K substitution abrogates the need for PI3K in AKT1 activation (Carpten et al. 2007, Landgraf et al. 2008)

external resources
NCBI:1268881
REACTOME:R-HSA-5674400
PUBMED:17611497
PUBMED:18954143

genes
AKT1 , AKT2 , BAD , CASP9 , CDKN1A , CDKN1B , CHUK , CREB1 , FOXO1 , FOXO3 , MTOR , GSK3A , GSK3B , NR4A1 , MDM2 , FOXO4 , PDPK1 , RPS6KB2 , TSC2 , AKT3 , PRR5 , MLST8 , MAPKAP1 , AKT1S1 , RICTOR ,