遗传 ›› 2020, Vol. 42 ›› Issue (8): 713-724.doi: 10.16288/j.yczz.20-020
• 综述 • 下一篇
收稿日期:
2020-02-19
修回日期:
2020-04-16
出版日期:
2020-08-20
发布日期:
2020-05-19
通讯作者:
鲁雅洁
E-mail:luyajie@njmu.edu.cn
作者简介:
张敏,在读硕士研究生,专业方向:遗传学。E-mail: 基金资助:
Zhang Min, Liang Lihong, Lu Yajie(), Cao Xin
Received:
2020-02-19
Revised:
2020-04-16
Online:
2020-08-20
Published:
2020-05-19
Contact:
Lu Yajie
E-mail:luyajie@njmu.edu.cn
Supported by:
摘要:
G蛋白偶联受体(G protein-coupled receptors, GPCRs)作为最大的一类膜蛋白受体家族,可被多种配体激活并发挥相应的信号转导功能,参与生物体内重要的生理过程。G蛋白偶联受体相关分选蛋白(G protein-coupled receptors associated sorting proteins, GASPs)则对内吞后的GPCRs分选过程发挥着重要的作用,并介导受体进入降解或再循环途径,进而调控细胞的信号转导等过程。研究发现GASPs的功能缺陷与多种疾病相关,包括神经系统疾病、肿瘤和耳聋等。本文重点介绍了G蛋白偶联受体相关分选蛋白的功能特征及其相关信号通路,描述了GASPs功能缺陷与疾病的关联性及家族蛋白与GPCRs的相互作用、GASPs分选途径的发现、参与的信号通路及对基因转录调控,以期为GASPs相关多种疾病的治疗提供新的思路和策略。
张敏, 梁丽鸿, 鲁雅洁, 曹新. G蛋白偶联受体相关分选蛋白功能特征与相关疾病研究进展[J]. 遗传, 2020, 42(8): 713-724.
Zhang Min, Liang Lihong, Lu Yajie, Cao Xin. G protein-coupled receptor-associated sorting proteins: function and relevant disorders[J]. Hereditas(Beijing), 2020, 42(8): 713-724.
表1
GASPs及其相互作用伴侣"
GASPs | 别名 | 互作伴侣 | 结合位点 | 主要功能 | 参考文献 | ||
---|---|---|---|---|---|---|---|
氨基末端 | 羧基末端 | GASP基序 | |||||
GASP-1 | PIPS/KIAA0443 | GPCRs | √ | √ | 参与转运和降解 | [ | |
Period 1 | √ | √ | 与昼夜节律调控相关 | [ | |||
Gab 1 | 结合位点尚未明确 | 与生长发育相关 | [ | ||||
Microtubules | √ | √ | 维持细胞骨架相关 | [ | |||
GASP-2 | HIP15 | GPCRs | √ | √ | 参与转运和降解 | [ | |
Htt | √ | 与亨廷顿舞蹈症相关 | [ | ||||
Smoothened | √ | 参与Hedgehog信号通路 | [ | ||||
mGluR5 | √ | 与自闭症有关 | [ | ||||
GASP-3 | P60TRP/BHLHB9 | GPCRs | √ | √ | 参与转运和降解 | [ | |
PPP2R5E | 结合位点尚未明确 | 与神经元的生长调节有关 | [ | ||||
IPO5 | 结合位点尚未明确 | 与神经元的生长调节有关 | [ | ||||
GASP-5 | ARMCX5 | GPCRs | √ | √ | 参与转运和降解 | [ | |
GASP-6 | ALEX3/ARMCX3 | Sox10 | √ | 与转录有关 | [ | ||
GASP-7 | ALEX1/ARMCX1 | GPCRs | √ | 参与转运和降解 | [ | ||
PP110 | 结合位点尚未明确 | 与肿瘤的发生和发展有关 | [ | ||||
GASP-8 | SVH | P53 | √ | 与肿瘤的发生和发展有关 | [ | ||
GASP-9 | ALEX2/ARMCX2 | VIM | 结合位点尚未明确 | 维持细胞骨架相关 | [ |
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