Various posttranslational modifications (PTMs) participate in nearly all aspects of biological processes by regulating protein functions, and aberrant states of PTMs are frequently implicated in human diseases. Therefore, an integral resource of PTM–disease associations (PDAs) would be a great help for both academic research and clinical use. In this work, we reported PTMD, a well-curated database containing PTMs that are associated with human diseases. We manually collected 1950 known PDAs in 749 proteins for 23 types of PTMs and 275 types of diseases from the literature. Database analyses show that phosphorylation has the largest number of disease associations, whereas neurologic diseases have the largest number of PTM associations. We classified all known PDAs into six classes according to the PTM status in diseases and demonstrated that the upregulation and presence of PTM events account for a predominant proportion of disease-associated PTM events. By reconstructing a disease–gene network, we observed that breast cancers have the largest number of associated PTMs and AKT1 has the largest number of PTMs connected to diseases. Finally, the PTMD database was developed with detailed annotations and can be a useful resource for further analyzing the relations between PTMs and human diseases. PTMD is freely accessible at http://ptmd.biocuckoo.org.
通过调控蛋白质的功能，蛋白质翻译后修饰（简称：修饰）几乎参与了所有的生物学过程，并且修饰异常状态常常与人类疾病有着密切的联系。因此，整合已有的疾病相关修饰信息将对学术研究和临床应用提供非常巨大的帮助。在这项工作中，我们发布了一个精准注释的与人类疾病相关修饰信息的数据库PTMD。我们从文献中手工收集了1950个疾病相关修饰信息。这些疾病相关修饰位于749个蛋白质上，涵盖了23种修饰类型和275种疾病类型。其中，磷酸化修饰有最多的疾病关联，而神经系统疾病则覆盖了最多的修饰类型。我们将所有已知的疾病相关修饰按照修饰对疾病的影响分为六类，结果表明修饰水平上调和修饰的存在与疾病有着更为紧密的关联。通过构建疾病?基因作用网络，我们发现乳腺癌拥有最大数量的修饰关联，而AKT1基因上则拥有最大数目的疾病相关修饰信息。最后，PTMD数据库带有非常详尽的注释信息，可以成为进一步分析修饰与人类疾病之间关系的有用资源。用户可以通过http://ptmd.biocuckoo.org访问PTMD数据库。





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