Automated description from the Alliance of Genome Resources (Release 7.0.0)
Enables several functions, including insulin receptor substrate binding activity; kinase regulator activity; and phosphatidylinositol 3-kinase regulatory subunit binding activity. Involved in several processes, including negative regulation of stress fiber assembly; positive regulation of cellular component organization; and transmembrane receptor protein tyrosine kinase signaling pathway. Acts upstream of or within several processes, including apoptotic signaling pathway; negative regulation of osteoclast differentiation; and positive regulation of tumor necrosis factor production. Located in several cellular components, including cell-cell junction; cis-Golgi network; and perinuclear endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and integumental system. Used to study SHORT syndrome and X-linked agammaglobulinemia. Human ortholog(s) of this gene implicated in several diseases, including SHORT syndrome; agammaglobulinemia 7; astroblastoma; endometrial cancer (multiple); and immunodeficiency 36. Orthologous to human PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1).
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