| 摘要: |
| MYBPC3基因突变是家族性肥厚型心肌病的原因之一。本文对心脏肌球蛋白结合蛋白C基因(cardic myosin binding protein C, MYBPC3)及其编码蛋白(cMyBP-C)进行生物信息学分析。运用生物信息学相关数据库和在线生物学软件分析MYBPC3基因的结构与突变位点,对cMyBP-C蛋白分子物种间的序列同源性、蛋白质空间结构、理化性质、组织特异性、蛋白质翻译后修饰、蛋白质相互作用网络进行分析。结果表明人MYBPC3基因mRNA全长为4 217 bp,编码区为3 825 bp,MYBPC3基因编码1 274个氨基酸组成的多肽,与物种进化程度一致,属于免疫球蛋白超家族,是酸性亲水蛋白,稳定性不高,其主要二级结构元件为随机卷曲。与cMyBP-C存在相互作用的基因和蛋白主要是磷酸激酶与肌小节组成成分。本文对MYBPC3基因进行生物信息学分析,为深入研究MYBPC3基因的分子功能以及靶向治疗遗传性心肌病提供一定的依据。 |
| 关键词: 肌球蛋白结合蛋白C MYBPC3基因 生物信息学 |
| DOI：10.3969/j.issn.1672-5565.2016.04.04 |
| 分类号:Q71 |
| 文献标识码:A |
| 基金项目:长治医学院创新团队项目(No.CX2015-07)。 |
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| Bioinformatics analysis of the MYBPC3gene and protein |
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REN Chenxia,MA Lixia
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(Key Laboratory of Blood Lipid Metabolism & Hematology in Colleges and Universities of Shanxi Province (Changzhi Medical College), Changzhi Shanxi 046000, China)
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| Abstract: |
| The MYBPC3gene mutations can cause hypertrophic cardiomyopathy (HCM). To analyze the biologycal information of MYBPC3gene and its coding protein. Bioinformatics approaches are applied to analyze mutant sites, hereditary conservation, chemical properties, space structure, and protein interaction networks of cMyBP-C protein. The cMyBP-C protein is comprised of 1 274 amino acid residues which belong to the immunoglobulin super family. It is a hydrophilic unstable protein without transmembrane region. The main secondary structure elements are random coil, and it contained eight immunoglobulin domains and three fibronectin type 3 domains. Interactive proteins with cMyBP-C are mainly its phosphokinase and sarcomere components. We analyze the insightful information of MYBPC3gene and its protein providing certain theoretical basis for the research of gene function of MYBPC3and its role in the formation and development of HCM. |
| Key words: cMyBP-C MYBPC3 Bioinformatics |
