Aliases for PIK3R1 Gene
- Phosphoinositide-3-Kinase Regulatory Subunit 1 2 3 5
- GRB1 2 3 4
- Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Alpha 3 4
- Phosphoinositide-3-Kinase, Regulatory Subunit 1 (Alpha) 2 3
- Phosphatidylinositol 3-Kinase Regulatory Subunit Alpha 3 4
- Phosphoinositide-3-Kinase Regulatory Subunit Alpha 2 3
- PtdIns-3-Kinase Regulatory Subunit Alpha 3 4
- PI3K Regulatory Subunit Alpha 3 4
- PI3-Kinase Subunit P85-Alpha 3 4
External Ids for PIK3R1 Gene
Previous GeneCards Identifiers for PIK3R1 Gene
Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
GeneCards Summary for PIK3R1 Gene
PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with PIK3R1 include Short Syndrome and Agammaglobulinemia 7, Autosomal Recessive. Among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and GDNF-Family Ligands and Receptor Interactions. Gene Ontology (GO) annotations related to this gene include GTP binding and transcription factor binding. An important paralog of this gene is PIK3R2.
UniProtKB/Swiss-Prot Summary for PIK3R1 Gene
Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling (PubMed:17626883, PubMed:19805105, PubMed:7518429). Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (PubMed:20348923).
PI 3-Kinases (phosphoinositide 3-kinases, PI 3-Ks) are a family of lipid kinases capable of phosphorylating the 3'OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation and survival.