Aliases for PIK3R1 Gene
- Phosphoinositide-3-Kinase Regulatory Subunit 1 2 3 5
- Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Alpha 3 4
- Phosphoinositide-3-Kinase, Regulatory Subunit 1 (Alpha) 2 3
- 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
- GRB1 3 4
- Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 1 (P85 Alpha) 3
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 ERK Signaling and mTOR Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and transcription factor binding. An important paralog of this gene is ENSG00000268173.
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, 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.