Integration and visualization of regulatory elements and variations of the EPAS1 gene in human

Kristan, Aleša (author), Debeljak, Nataša (author), Kunej, Tanja (author)

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.

• Language: English
• Keywords: EPAS1 gene, hypoxia-inducible factor (HIF), regulatory elements
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine; BF - Biotechnical Faculty
• Publication status: Published
• Publication version: Version of Record
• Year: 2021
• Number of pages: 17 str.
• Numbering: Vol. 12, iss. 11, art. 1793
• PID: 20.500.12556/RUL-133323
• UDC: 61:575
• ISSN on article: 2073-4425
• DOI: 10.3390/genes12111793
• COBISS.SI-ID: 84823299
• Publication date in RUL: 22.11.2021

KRISTAN, Aleša, DEBELJAK, Nataša and KUNEJ, Tanja, 2021, Integration and visualization of regulatory elements and variations of the EPAS1 gene in human. Genes [online]. 2021. Vol. 12, no. 11,  1793. [Accessed 11 April 2025]. DOI 10.3390/genes12111793. Retrieved from: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=eng&id=133323

Record is a part of a journal

• Title: Genes
• Shortened title: Genes
• Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
• Licensing start date: 13.11.2021

Secondary language

• Language: Slovenian
• Keywords: medicina, genetika, EPAS1 gen, HIF1A, hipoksija