心肌桥粒盘状球蛋白 JUP 的生物信息学分析

目的：：对 J up 基因及其蛋白进行生物信息学分析，为研究 J up 基因功能及其在心肌病形成和发展中的作用提供一定的理论基础。方法：运用生物信息学相关数据库和软件对 J up 基因的结构、单核苷酸多态性、JUP 蛋白分子的理化性质、二级结构、序列保守性、蛋白质相互作用网络进行分析。结果：人J up 基因编码区存在11个 SNPs 位点。J up 基因编码745个氨基酸组成的多肽，属亲水蛋白，稳定性不高，其主要二级结构元件为α-螺旋，进化中高度保守，属于 ARM 超家族。与 JUP 存在相互作用的基因和蛋白主要是桥粒组成成分与经典钙粘素信号途径组分。结论：J up 基因突变和 JUP 蛋白表达量的改变可引起相关的心肌病，本文对 J up 基因及其蛋白进行系统的生物信息学分析，为进一步实验研究其在心肌病的形成和发展的调控机制奠定基础。

Bioinformatics Analysis of Plakoglobin Gene and Protein

Objective:To analyze the Jup gene and its protein with bioinformatics,and explore its action in process of cardiomyopathy and development.Methods:Bioinformatics methods were applied to analyze the genetic structure and single nucleotide polymorphisms of Jup,and physicochemical properties,secondary structure,hereditary conservation,protein interaction networks of JUP.Results:Eleven SNPs were found in the coding regions,including five missense mutations.JUP protein was comprised of 745 amino acid residues and was a hydrophilic unstable protein.The main secondary structure elements were alpha helix,and it was highly conserved in evolution and belonged to the ARM superfamily.The interaction network with JUP were mainly desmosome components and classical cadherin signaling pathway components.Conclusion:The changed expression of JUP can cause certain cardiomyopathy,so we analyze the insightful information of Jup gene and its protein by bioinformatics in this paper,laying a foundation for further experimental study on its regulatory mechanism in the formation and development of cardiomyopathy.