Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform H1047R mutant (PI3Kα H1047R mutant)

The PI3Kα H1047R mutant refers to a specific gain-of-function mutation (histidine to arginine at position 1047) in the catalytic subunit alpha of class I phosphatidylinositol 3-kinase (PIK3CA), a lipid kinase critical in cellular signaling pathways governing proliferation, survival, and metabolism. This mutation is among the most common oncogenic alterations in human cancers, especially breast, colorectal, and endometrial cancers. The H1047R variant increases kinase activity, enhances membrane binding, disrupts inhibitory regulatory contacts, augments AKT signaling, and promotes malignant behaviors such as increased migration and metastasis. PI3Kα bearing the H1047R mutation is a validated target for small-molecule inhibitors, several of which are FDA-approved or in advanced clinical trials for PI3K-mutant cancers[1][3][5][8].

Other names

PIK3CA H1047R mutantp110α H1047R mutantPI3K-alpha H1047Rphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha variant H1047RH1047R mutation in PIK3CA

Inhibition of p110α kinase activity; Blockade of PI3K/AKT/mTOR signaling pathway; Induction of apoptosis; Suppression of cell growth and proliferation in mutant cell lines