EPAS1
GeneName
EPAS1
Summary
EPAS1, also known as HLF or HRF, is a 96 kDa transcription factor that is primarily expressed in the nucleus and plays a pivotal role in the cellular response to hypoxia. It is involved in various biological processes including angiogenesis, blood vessel remodeling, and erythrocyte differentiation. EPAS1 functions as a DNA-binding transcription activator specific to RNA polymerase II, regulating the transcription of genes associated with oxygen homeostasis and vascular development. It also participates in the regulation of heart rate and is implicated in lung development and epithelial cell maturation, among other functions.
Importance
EPAS1 is relevant to: - Hypoxia-related diseases, including cancer, where it contributes to tumour growth and metastasis through angiogenic pathways. - Cardiovascular research due to its role in regulating heart rate and blood vessel formation. - Developmental biology, particularly in the context of embryonic placenta development and lung maturation. - Metabolic studies, as it is involved in norepinephrine metabolism and thermogenesis regulation.
Top Products
For researchers investigating EPAS1, we recommend two primary antibodies that stand out for their performance and reliability. The first is the well-cited Anti-HIF-2-alpha antibody [ep190b] (ab8365), a monoclonal antibody that has garnered 74 citations, reflecting its strong reputation in the field. This antibody is particularly effective for Western blotting (WB), making it a solid choice for those focused on protein detection.In addition, we offer the recombinant Anti-HIF-2-alpha antibody [EPR19656] (ab207607), which has been validated for multiple applications, including WB, immunocytochemistry (ICC), and immunoprecipitation (IP). With 13 citations, this recombinant antibody provides the batch-to-batch consistency that many researchers seek. Together, these antibodies provide excellent options for studying EPAS1 with confidence in their performance. The Anti-HIF-2-alpha antibody ELISA Kit (ab243861), with 14 citations, is an excellent option for researchers looking to accurately measure EPAS1 levels in their samples.
Abcam Product Citation Summary
The use of Abcam antibody ab8365 for EPAS1 detection highlights its relevance in studies related to cell proliferation and human dysgerminoma tissue. This suggests a potential role of EPAS1 in cancer biology and cellular processes.
Abcam Product Citation Table
Function
Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX1 seems to activate CTAD (By similarity).
Involvement in disease
Erythrocytosis, familial, 4
ECYT4
An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
In normoxia, is probably hydroxylated on Pro-405 and Pro-531 by EGLN1/PHD1, EGLN2/PHD2 and/or EGLN3/PHD3. The hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization (By similarity).
In normoxia, is hydroxylated on Asn-847 by HIF1AN thus probably abrogating interaction with CREBBP and EP300 and preventing transcriptional activation.
Phosphorylated on multiple sites in the CTAD.
The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains.
Tissue Specificity
Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively expressed in endothelial cells.
Cellular localization
- Nucleus
- Nucleus speckle
- Colocalizes with HIF3A in the nucleus and speckles.
Alternative names
BHLHE73, HIF2A, MOP2, PASD2, EPAS1, Endothelial PAS domain-containing protein 1, EPAS-1, Basic-helix-loop-helix-PAS protein MOP2, Class E basic helix-loop-helix protein 73, HIF-1-alpha-like factor, Hypoxia-inducible factor 2-alpha, Member of PAS protein 2, PAS domain-containing protein 2, bHLHe73, HLF, HIF-2-alpha, HIF2-alpha
Database links
swissprot:Q99814 omim:603349 entrezGene:2034
Other research areas
- Oncology