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EPAS1

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]
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Adipocytes, Hepatic stellate cells, Endothelial cells, Syncytiotrophoblasts)

Immune cell specificity

Group enriched (basophil, eosinophil)

Cell line specificity

Cell line enhanced (BEWO, BJ hTERT+, HHSteC, RT4, TIME, U-138 MG)

Interaction

Interacts with HIF3A (By similarity). Efficient DNA binding requires dimerization with another bHLH protein. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (PubMed:16181639). Interacts with CREBBP (By similarity). Interacts with EGLN1. Interacts with VHL (PubMed:19208626). (Microbial infection) Interacts with Kaposi's sarcoma-associated herpesvirus/HHV-8 protein ORF34; this interaction results in increased stability of EPAS1 and thus activation of its transcriptional activity.

Molecular function

Activator, Developmental protein, DNA-binding

More Types Infomation

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