基因名称:PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1)
别名: AGM7,GRB1,IMD36,p85,p85-ALPHA
基因ID:5295
Chromosome(GRCh37) :5 Start: 67511548 End: 67597649 Strand: 1
信号通路: 细胞增殖
免疫相关
炎症相关
血管生成
凋亡抑制
能量代谢
靶向药: Buparlisib
Torkinib
化疗药:
简介:磷脂酰肌醇3-激酶在3-主要位置磷酸化磷脂酰肌醇的肌醇环。所述酶包括110 kD催化亚单位和85、55或50 kD调节亚单位。该基因编码85kD调节亚单位。磷脂酰肌醇3激酶在胰岛素的代谢作用中起着重要作用,该基因的突变与胰岛素抵抗有关。这种基因的选择性剪接导致四个转录变体编码不同的亚型。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.
PIK3R1突变与药物:
MUTATION
药物:
Buparlisib
Torkinib
疾病:
乳腺癌
多形性胶质母细胞瘤