AKT1 - Wikipedia
The serine-threonine protein kinase AKT1 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.
AKT1 gene - MedlinePlus
At least one mutation in the gene has been found to cause Proteus syndrome, a rare condition characterized by overgrowth of the bones, skin, and other tissues. This mutation changes a single protein building block (amino acid) in AKT1 kinase.
AKT Inhibition in Solid Tumors With AKT1 Mutations
2017年5月10日 · Large-scale genomic profiling of human cancers has identified gain-of-function mutations in AKT1 in a broad range of tumor types, with AKT1 E17K being, by far, the most frequent hotspot. 9-14 This mutation promotes pathologic localization of AKT1 to the plasma membrane, thereby stimulating constitutive downstream signaling. 15
AKT1 AKT serine/threonine kinase 1 [ (human)] - National Center …
5 天之前 · Mutations in AKT1 gene is associated with ductal adenomas. results suggest that AKT1, FTO, and AKTIP polymorphisms were not associated with obesity/overweight in Brazilians children. Study of four cases confirms BRAF V600E mutation as a probable driver in a subset of ciliated muconodular papillary tumors (CMPT) of the lung, along with AKT1 ...
AKT1 Gene - GeneCards | AKT1 Protein | AKT1 Antibody
6 天之前 · AKT1, also referred to as protein kinase B, is a known oncogene. AKT activation relies on the PI3K pathway, and is recognized as a critical node in the pathway. The E17 hotspot is the most characterized of AKT1 mutations, and has been shown to result in activation of the protein.
Recurrent AKT mutations in human cancers: functional consequences and ...
Mutations in the highly homologous kinases AKT1, AKT2, or AKT3 occur in approximately 3-5% of cancers. A single hotspot mutation G49A:E17K occurs most often in AKT1, but the corresponding E17K mutation has also been found in AKT2 and AKT3 [2]. E17K accounts for 36% of AKT1 mutations in cBioPortal but is less prevalent in AKT2 and AKT3.
AKT mutant allele-specific activation dictates pharmacologic ...
2022年4月19日 · We analyzed somatic mutations in AKT1, AKT2, and AKT3 in a cohort of 41,075 human cancers including both retrospective sequencing of largely primary and treatment-naïve tumors from The Cancer...
AKT kinases as therapeutic targets | Journal of Experimental
2024年11月29日 · AKT activation by mutations. The vast majority of AKT1 gene missense mutations encompass the PH domain, the most common one being E17K, which has been reported in bladder, breast, ovarian, endometrial, urothelial, colorectal, lung and pancreatic cancers [240,241,242,243,244,245].
AKT1 E17K mutation profiling in breast cancer: prevalence, …
2016年8月11日 · We analyzed more than 600 breast cancer tumor samples and circulating tumor DNA for AKT1 E17K and alterations in other cancer-associated genes using Beads, Emulsions, Amplification, and Magnetics digital polymerase chain reaction technology and …
Characteristics and Outcome of AKT1 E17K -Mutant Breast Cancer …
2020年4月1日 · AKT inhibitors have promising activity in AKT1 E17K -mutant estrogen receptor (ER)–positive metastatic breast cancer, but the natural history of this rare genomic subtype remains unknown.
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