G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss
G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss
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DOI：
10.1093/bioinformatics/btl123
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发表时间：
2006-09-15
期刊：
影响因子：
5.8
通讯作者：
Liang, Song-Ping
中科院分区：
文献类型：
--
作者：
He, Quan-Yuan;Liu, Xiang-Hua;Liang, Song-Ping
我们报道了一个新的蛋白质结构域- g8，它包含5个重复的β -链对，存在于一些疾病相关蛋白中，如PKHD1， KIAA1199， TMEM2以及其他未表征的蛋白。大多数含g8的蛋白被预测为膜整合蛋白或分泌蛋白。G8结构域可能参与细胞外配体的结合和催化。据报道，人类PKHD1蛋白的两个G8结构域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，表明该结构域结构的重要性。G8也存在于一些非综合征性听力损失疾病相关蛋白的n端，如KIAA1109和TMEM2。G8结构域的发现对于研究相关蛋白的结构/功能以及开发新的治疗方法具有重要意义。
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.