Disease-gene associations mined from literature

Literature associating PIK3R1 and familial erythrocytosis 1

PIK3R1 [ENSP00000428056]

Phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha; 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. 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.

Synonyms:  PIK3R1,  PIK3R1p,  hPIK3R1,  B3KWZ7,  E5RGI8 ...

Linkouts:  STRING  Pharos  UniProt