人BEST1蛋白结构和功能的生物信息学分析

Bioinformatics analysis of the structure and function of human BEST1 protein

BEST1又称BESTROPHIN-1,是位于视网膜色素上皮的一种膜蛋白,具有调节细胞体积、传导离子运输、维持细胞稳态等功能,在机体中发挥着重要的作用,且大量文献报道,该基因点突变能产生一系列视网膜退行性疾病。为了进一步研究该蛋白质的性质和功能,本研究利用生物信息学的方法对该基因序列及编码蛋白质序列进行生物信息学分析,结果表明,人BEST1位于第11号染色体,对应蛋白质是含有585个氨基酸的亲水蛋白,分子式为C_(3095)H_(4722)N_(829)O_(808)S_(21),具有四个跨膜结构,无信号肽,属于非分泌性蛋白,具有大量的丝氨酸(Ser)和苏氨酸(Thr)磷酸化位点、3个N-糖基化修饰位点,亚细胞定位主要位于细胞膜,具有传导神经递质门控、小分子物质运输通路等功能。

BEST1, also known as BESTROPHIN-1, is a membrane protein located in the retinal pigment epithelium. It has functions of regulating cell volume, conducting ion transport, maintaining cell homeostasis and so on, and plays an important role in the body. A large number of literatures have reported point mutation of this gene, which can produce a series of retinal degenerative diseases. To further study the property and function of the protein, this study using bioinformatics methods like gene sequencing and coding protein sequences analysis, the results show that human BEST1 located on chromosome 11, containing hydrophilic protein of 585 amino acids, the protein formula is C_(3095)H_(4722)N_(829)O_(808)S_(21). It has four transmembrane structures,no signal peptide and belongs to non-secretory protein. It has a large number of serine(Ser) and threonine(Thr)phosphorylation sites, three N-glycosylation modification sites, subcellular localization is mainly located in the cell membrane, and has the functions of conducting neurotransmitter gating, small molecule transport pathway and so on.