Membrane topology of the human seipin protein
Membrane topology of the human seipin protein
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DOI：
10.1016/j.febslet.2006.03.040
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发表时间：
2006-04-17
期刊：
影响因子：
3.5
通讯作者：
Nilsson, I
中科院分区：
文献类型：
--
作者：
Lundin, C;Nordström, R;Nilsson, I
Berardinelli-Seip先天性脂肪营养不良2型（BSCL 2）基因编码一种整合的膜蛋白，称为seipin，定位于真核细胞的内质网，功能未知。Seipin与异质性遗传疾病BSCL 2相关，N-糖基化基序中的突变将该蛋白质与其他两种疾病联系起来，即常染色体显性遗传性远端遗传性运动神经病V型和银综合征。在这里，我们报告的拓扑研究seipin使用在体外拓扑映射分析。我们的研究结果表明，seipin的主要形式是462个残基长，并有一个N-cyt-C-cyt的取向与两个跨膜螺旋之间的长腔环。(c)2006年欧洲生物化学学会联合会。Elsevier B. V.出版，保留所有权利。
The Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) gene encodes an integral membrane protein, called seipin, of unknown function localized to the endoplasmic reticulum of eukaryotic cells. Seipin is associated with the heterogeneous genetic disease BSCL2, and mutations in an N-glycosylation motif links the protein to two other disorders, autosomal-dominant distal hereditary motor neuropathy type V and Silver syndrome. Here, we report a topological study of seipin using an in vitro topology mapping assay. Our results suggest that the predominant form of seipin is 462 residues long and has an N-cyt-C-cyt orientation with a long luminal loop between the two transmembrane helices. (c) 2006 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.