PIK3R1: regulatory subunit of phosphoinositide-3-kinase. Mediates binding to a subset of tyrosine-phosphorylated proteins through its SH2 domain. Acts as an adapter, mediating the association of the p110 catalytic unit of the alpha, beta and delta enzymes to the plasma membrane, where p110 phosphorylates inositol lipids. May play an additional role in the regulation of the actin cytoskeleton. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Its SH2 domains interacts with the YTHM motif of phosphorylated INSR in vitro. Defects in PIK3R1 are a cause of severe insulin resistance. Four alternatively spliced isoforms have been described.
Protein type: Kinase, lipid; Motility/polarity/chemotaxis; Enzyme, regulatory subunit
Chromosomal Location of Human Ortholog: 5q13.1
Cellular Component: membrane; cytoplasm; plasma membrane; intercellular junction; cytosol; nucleus; phosphoinositide 3-kinase complex
Molecular Function: insulin binding; insulin-like growth factor receptor binding; protein binding; ErbB-3 class receptor binding; insulin receptor substrate binding; neurotrophin TRKA receptor binding; phosphoinositide 3-kinase binding; phosphoinositide 3-kinase regulator activity; protein phosphatase binding; transmembrane receptor protein tyrosine kinase adaptor protein activity; transcription factor binding; insulin receptor binding
Biological Process: negative regulation of osteoclast differentiation; phosphoinositide 3-kinase cascade; viral reproduction; nerve growth factor receptor signaling pathway; positive regulation of RNA splicing; NFAT protein import into nucleus; protein amino acid phosphorylation; T cell receptor signaling pathway; regulation of phosphoinositide 3-kinase activity; positive regulation of glucose import; phosphoinositide phosphorylation; phospholipid metabolic process; positive regulation of transcription factor import into nucleus; epidermal growth factor receptor signaling pathway; platelet activation; fibroblast growth factor receptor signaling pathway; phosphoinositide-mediated signaling; protein stabilization; positive regulation of tumor necrosis factor production; negative regulation of cell-matrix adhesion; DNA damage response, signal transduction resulting in induction of apoptosis; cellular response to insulin stimulus; induction of apoptosis via death domain receptors; insulin-like growth factor receptor signaling pathway; B cell differentiation; T cell costimulation; phosphatidylinositol biosynthetic process; insulin receptor signaling pathway; cell glucose homeostasis; innate immune response; positive regulation of transcription from RNA polymerase II promoter; vascular endothelial growth factor receptor signaling pathway; blood coagulation; leukocyte migration; positive regulation of cell migration; negative regulation of apoptosis
Disease: Agammaglobulinemia 7, Autosomal Recessive; Short Syndrome; Immunodeficiency 36
Show more