Integration and Visualization of Regulatory Elements and Variations of the <i>EPAS1</i> 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...

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Autores principales:	Aleša Kristan, Nataša Debeljak, Tanja Kunej
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>EPAS1</i> gene hypoxia-inducible factor (HIF) regulatory elements Genetics QH426-470
Acceso en línea:	https://doaj.org/article/e2cc3837c6224cad988ea93339d172ef
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spelling	oai:doaj.org-article:e2cc3837c6224cad988ea93339d172ef2021-11-25T17:42:02ZIntegration and Visualization of Regulatory Elements and Variations of the <i>EPAS1</i> Gene in Human10.3390/genes121117932073-4425https://doaj.org/article/e2cc3837c6224cad988ea93339d172ef2021-11-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1793https://doaj.org/toc/2073-4425Endothelial 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 <i>EPAS1</i>, to enable a better understanding of EPAS1 activity and regulation and support future research.Aleša KristanNataša DebeljakTanja KunejMDPI AGarticle<i>EPAS1</i> genehypoxia-inducible factor (HIF)regulatory elementsGeneticsQH426-470ENGenes, Vol 12, Iss 1793, p 1793 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>EPAS1</i> gene hypoxia-inducible factor (HIF) regulatory elements Genetics QH426-470
spellingShingle	<i>EPAS1</i> gene hypoxia-inducible factor (HIF) regulatory elements Genetics QH426-470 Aleša Kristan Nataša Debeljak Tanja Kunej Integration and Visualization of Regulatory Elements and Variations of the <i>EPAS1</i> Gene in Human
description	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 <i>EPAS1</i>, to enable a better understanding of EPAS1 activity and regulation and support future research.
format	article
author	Aleša Kristan Nataša Debeljak Tanja Kunej
author_facet	Aleša Kristan Nataša Debeljak Tanja Kunej
author_sort	Aleša Kristan
title	Integration and Visualization of Regulatory Elements and Variations of the <i>EPAS1</i> Gene in Human
title_short	Integration and Visualization of Regulatory Elements and Variations of the <i>EPAS1</i> Gene in Human
title_full	Integration and Visualization of Regulatory Elements and Variations of the <i>EPAS1</i> Gene in Human
title_fullStr	Integration and Visualization of Regulatory Elements and Variations of the <i>EPAS1</i> Gene in Human
title_full_unstemmed	Integration and Visualization of Regulatory Elements and Variations of the <i>EPAS1</i> Gene in Human
title_sort	integration and visualization of regulatory elements and variations of the <i>epas1</i> gene in human
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/e2cc3837c6224cad988ea93339d172ef
work_keys_str_mv	AT alesakristan integrationandvisualizationofregulatoryelementsandvariationsoftheiepas1igeneinhuman AT natasadebeljak integrationandvisualizationofregulatoryelementsandvariationsoftheiepas1igeneinhuman AT tanjakunej integrationandvisualizationofregulatoryelementsandvariationsoftheiepas1igeneinhuman
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Integration and Visualization of Regulatory Elements and Variations of the <i>EPAS1</i> Gene in Human

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