Pik3ca - phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Gene

中文名称：磷脂酰肌醇 4 ,5-二磷酸 3-激酶催化亚基 α

种属: Mus musculus

同用名: p110; caPI3K; p110alpha; 6330412C24Rik

关于 Pik3ca

功能概要

该基因编码的蛋白可启动 1-phosphatidylinositol-3-kinase 活性；胰岛素受体底物结合活性；和蛋白激酶激活剂活性。参与多个过程，包括磷脂酰肌醇 3-激酶信号传导；肽基丝氨酸磷酸化的正调控；和调节含核碱基的化合物代谢过程。作用于多个过程的上游或内部，包括能量稳态；细胞凋亡过程的负调控；和蛋白激酶 B 信号。位于闰盘和片状足中。磷脂酰肌醇 3-激酶复合物的一部分。以多种结构表达，包括早期胚胎；眼睛;和神经系统。用于研究 CLOVES 综合征和乳腺癌。该基因的人类直系同源物与多种疾病有关，包括 CLOVES 综合征；考登综合症 5；乳腺癌（多发性）；皮肤佩吉特病;和胃肠系统癌症（多发性）。与人 PIK3CA（磷脂酰肌醇 4,5-二磷酸 3-激酶催化亚基 α）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables 1-phosphatidylinositol-3-kinase activity; Insulin Receptor substrate binding activity; and protein kinase activator activity. Involved in several processes, including phosphatidylinositol 3-kinase signaling; positive regulation of peptidyl-serine phosphorylation; and regulation of nucleobase-containing compound metabolic process. Acts upstream of or within several processes, including energy homeostasis; negative regulation of apoptotic process; and protein kinase B signaling. Located in intercalated disc and lamellipodium. Part of phosphatidylinositol 3-kinase complex. Is expressed in several structures, including early embryo; eye; and nervous system. Used to study CLOVES syndrome and breast Cancer. Human ortholog(s) of this gene implicated in several diseases, including CLOVES syndrome; Cowden syndrome 5; breast Cancer (multiple); cutaneous Paget's disease; and gastrointestinal system Cancer (multiple). Orthologous to human PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). [provided by Alliance of Genome Resources, Apr 2022]