Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | AKT1 |
| Gene Name: | AKT1 |
| Protein Full Name: | RAC-alpha serine/threonine-protein kinase |
| Alias: | AKT; Akt1; AKT1 kinase; C-AKT; EC 2.7.11.1; Kinase Akt1; PKB; PKB-alpha; PRKBA; Protein kinase B; RAC; RAC-alpha serine,threonine kinase; RAC-alpha serine/threonine kinase; RAC-PK-alpha; V-akt murine thymoma viral oncogene 1 |
| Mass (Da): | 55686 |
| Number AA: | 480 |
| UniProt ID: | P31749; B0LPE5 |
| Locus ID: | 207 |
| COSMIC ID: | AKT1 |
| Gene location on chromosome: | 14q32-33 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 41438 |
| Percent of cancer specimens with mutations: | 1.27 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | One major site of point mutations (AA 17), with no insertions, deletions or complex mutations. |
| Commonly recorded point mutations: | E17K (442) |
| Found in amplified chromosomal regions in human cancers: | Gastric cancers (20%); Amplification of AKT1 has been described in human gastric adenocarcinoma, in lung and other cancers |
| Transduced into viral genome: | AKT8 virus - - Mouse |
| Normal role description: | AKT1 is a protein-serine/threonine kinase which is inactive in the cytoplasm. When PI3K is activated by extracellular growth factors, AKT1 is recruited to the cell membrane and phosphorylated to become active. This leads to the induction of survival, proliferation, angiogenesis and metabolism pathways. AKT1 is also involved in cell-cycle progression via its inhibitory phosphorylation of cyclin-dependent kinases and activatory phosphorylation of mTOR. Upregulation of the PI3K/AKT pathways has been implicated in a variety of cancers. |
| Commentary on involvement of protein in cancer: | E17 is located within the PH domain. E17K in breast cancer and PROTEUSS; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane. E17K: No effect on membrane localization. Loss of membrane localization; when associated with Q-20. |