Aliases for PIK3R1 Gene
- Phosphoinositide-3-Kinase, Regulatory Subunit 1 (Alpha) 2 3
- GRB1 3 4 6
- Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Alpha 3 4
- PtdIns-3-Kinase Regulatory Subunit Alpha 3 4
- PI3K Regulatory Subunit Alpha 3 4
- PI3-Kinase Subunit P85-Alpha 3 4
- AGM7 3 6
- Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 1 (P85 Alpha) 3
- Phosphatidylinositol 3-Kinase Regulatory Subunit Alpha 3
External Ids 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 (Alpha)) is a Protein Coding gene. Diseases associated with PIK3R1 include agammaglobulinemia 7, autosomal recessive and short syndrome. Among its related pathways are PI3K-Akt signaling pathway and PI-3K cascade. GO annotations related to this gene include protein phosphatase binding and 1-phosphatidylinositol binding. An important paralog of this gene is PIK3R3.
UniProtKB/Swiss-Prot 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, PI3Ks) are family of lipid kinases capable of phosphorylating the 3OH of the inositol ring of phosphoinositides. They are responsible for coordinating a diverse range of cell functions including proliferation, cell survival, degranulation, vesicular trafficking and cell migration. The PI 3-kinases are grouped into three distinct classes. Class I PI 3-kinases are heteromeric consisting of a regulatory subunit and a 110 kDA catalytic subunits (3 forms in class 1A : alpha-, beta- and delta- and one in class 1B : gamma-). PI 3-kinases p110 alpha- and beta- are ubiquitously expressed whilst p110 delta- expression is associated with leukocytes. Activating mutations in the p110alpha- subunit have recently been discovered in certain types of cancer cell. Class II PI 3-kinases are large homomeric enzymes (C2alpha-, beta- and gamma-) that are sensitive to wortmannin (although less sensitive than Class 1 PI 3-kinases) but are resistant to LY 292002. Class III contains just one member, hVps34p, which is thought to play an important role in both protein sorting and nutrient sensing in concert with the mTOR pathway.