G8：一种与多囊肾病和非综合征性听力损失相关的新结构域。
G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss.
作者信息
He Quan-yuan, Liu Xiang-hua, Li Qiang, Studholme David J, Li Xuan-wen, Liang Song-ping
机构信息
Key Laboratory of Protein Chemistry and Developmental Biology of Education Committee, College of Life Sciences, Hunan Normal University Changsha, People's Republic of China.
出版信息
Bioinformatics. 2006 Sep 15;22(18):2189-91. doi: 10.1093/bioinformatics/btl123. Epub 2006 Apr 21.
UNLABELLED
We report a novel protein domain-G8-which contains five repeated beta-strand pairs and is present in some disease-related proteins such as PKHD1, KIAA1199, TMEM2 as well as other uncharacterized proteins. Most G8-containing proteins are predicted to be membrane-integral or secreted. The G8 domain may be involved in extracellular ligand binding and catalysis. It has been reported that mis-sense mutations in the two G8 domains of human PKHD1 protein resulted in a less stable protein and are associated with autosomal-recessive polycystic kidney disease, indicating the importance of the domain structure. G8 is also present in the N-terminus of some non-syndromic hearing loss disease-related proteins such as KIAA1109 and TMEM2. Discovery of G8 domain will be important for the research of the structure/function of related proteins and beneficial for the development of novel therapeutics.
CONTACT
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我们报道了一种新型蛋白质结构域——G8，它包含五个重复的β链对，存在于一些与疾病相关的蛋白质中，如PKHD1、KIAA1199、TMEM2以及其他未表征的蛋白质。大多数含G8的蛋白质预计为膜整合蛋白或分泌蛋白。G8结构域可能参与细胞外配体结合和催化作用。据报道，人类PKHD1蛋白的两个G8结构域中的错义突变导致蛋白质稳定性降低，并与常染色体隐性多囊肾病相关，这表明该结构域结构的重要性。G8也存在于一些与非综合征性听力损失疾病相关的蛋白质的N端，如KIAA1109和TMEM2。G8结构域的发现对于相关蛋白质的结构/功能研究具有重要意义，并且有利于新型治疗方法的开发。
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