人类 EPAS1 基因调控元件和变异的整合和可视化,Genes

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人类 EPAS1 基因调控元件和变异的整合和可视化
Genes ( IF 2.8 ) Pub Date : 2021-11-13 , DOI: 10.3390/genes12111793
Aleša Kristan ₁ , Nataša Debeljak ₁ , Tanja Kunej ₂

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内皮 PAS 结构域蛋白 1 (EPAS1)，也称为 HIF2α，是缺氧诱导转录因子 (HIF) 的 α 亚基，可介导细胞和全身对缺氧的反应。EPAS1在许多缺氧反应基因的转录中具有重要作用，但是，它的研究少于HIF1α。本研究的目的是将越来越多的 EPAS1 数据整合到不同 OMICs 元素的地图中。检查了出版物、数据库和生物信息学工具，包括 Ensembl、MethPrimer、STRING、miRTarBase、COSMIC 和 LOVD。EPAS1 的表达、稳定性和活性在几个 OMIC 水平上受到严格调节，以维持复杂的氧稳态。在综合 EPAS1 图中，我们包括：31 个启动子结合蛋白、13 个相互作用的 miRNA 和一个 lncRNA，和 16 个调节 EPAS1 蛋白丰度的翻译后修饰。EPAS1 与各种癌症类型和其他疾病有关。神经内分泌肿瘤和红细胞增多症的发展被证明与 11 种体细胞变异和 20 种生殖系变异有关。综合图谱还包括 12 个 EPAS1 靶基因和 27 个相互作用蛋白。该研究介绍了第一个综合图谱，其中包含与与EPAS1，以便更好地了解 EPAS1 的活动和监管并支持未来的研究。

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Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human

Endothelial PAS domain-containing protein 1 (EPAS1), also HIF2α, is an alpha subunit of hypoxia-inducible transcription factor (HIF), which mediates cellular and systemic response to hypoxia. EPAS1 has an important role in the transcription of many hypoxia-responsive genes, however, it has been less researched than HIF1α. The aim of this study was to integrate an increasing number of data on EPAS1 into a map of diverse OMICs elements. Publications, databases, and bioinformatics tools were examined, including Ensembl, MethPrimer, STRING, miRTarBase, COSMIC, and LOVD. The EPAS1 expression, stability, and activity are tightly regulated on several OMICs levels to maintain complex oxygen homeostasis. In the integrative EPAS1 map we included: 31 promoter-binding proteins, 13 interacting miRNAs and one lncRNA, and 16 post-translational modifications regulating EPAS1 protein abundance. EPAS1 has been associated with various cancer types and other diseases. The development of neuroendocrine tumors and erythrocytosis was shown to be associated with 11 somatic and 20 germline variants. The integrative map also includes 12 EPAS1 target genes and 27 interacting proteins. The study introduced the first integrative map of diverse genomics, transcriptomics, proteomics, regulomics, and interactomics data associated with EPAS1, to enable a better understanding of EPAS1 activity and regulation and support future research.

更新日期：2021-11-13

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