INSIG1 - insulin induced gene 1 Gene

中文名称：胰岛素诱导基因 1

种属: Homo sapiens

同用名: CL6

关于 INSIG1

功能概要

该基因编码调节胆固醇代谢、脂肪生成和葡萄糖稳态的内质网膜蛋白。编码的蛋白质有六个跨膜螺旋，其中包含一个效应蛋白结合位点。它结合甾醇调节元件结合蛋白 (SREBP) 裂解激活蛋白 (SCAP) 和 3-羟基-3-甲基戊二酰辅酶 A 还原酶 (HMG-CoA 还原酶) 的甾醇感应域，并且对于甾醇-介导这两种蛋白质的运输。它促进 SCAP 的内质网保留和泛素介导的 HMG-CoA 还原酶降解。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 10 月]

This gene encodes an endoplasmic reticulum membrane protein that regulates Cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]