Integration and visualization of regulatory elements and variations of the EPAS1 gene in human
| Autor: | Tanja Kunej, Nataša Debeljak, Aleša Kristan |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Transcriptional Activation
EPAS1 gene Genomics Computational biology Biology QH426-470 Proteomics Article Oxygen homeostasis hipoksija Genetics Basic Helix-Loop-Helix Transcription Factors Ensembl Humans Promoter Regions Genetic Transcription factor Genetics (clinical) MiRTarBase Polymorphism Genetic EPAS1 gen EPAS1 Gene EPAS1 Computational Biology HIF1A hypoxia-inducible factor (HIF) genetika udc:61:575 regulatory elements Protein Processing Post-Translational medicina |
| Zdroj: | Genes, vol. 12, no. 11, 1793, 2021. Genes Volume 12 Issue 11 Genes, Vol 12, Iss 1793, p 1793 (2021) |
| ISSN: | 2073-4425 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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