Aliases for EPAS1 Gene
External Ids for EPAS1 Gene
Previous GeneCards Identifiers for EPAS1 Gene
This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]
GeneCards Summary for EPAS1 Gene
EPAS1 (Endothelial PAS Domain Protein 1) is a Protein Coding gene. Diseases associated with EPAS1 include autosomal dominant secondary polycythemia and sporadic pheochromocytoma. Among its related pathways are Developmental Biology and Pathways in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is AHRR.
UniProtKB/Swiss-Prot for EPAS1 Gene
Transcription factor involved in the induction of oxygen regulated genes. Binds to core DNA sequence 5-[AG]CGTG-3 within the hypoxia response element (HRE) of target gene promoters. 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 seems to require recruitment of transcriptional coactivators such as CREBPB and probably EP300. Interaction with redox regulatory protein APEX seems to activate CTAD