InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EPAS1

Summary

InnateDB Protein

IDBP-50212.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EPAS1

Protein Name

endothelial PAS domain protein 1

Synonyms

bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2;

Species

Homo sapiens

Ensembl Protein

ENSP00000263734

InnateDB Gene

IDBG-50208 (EPAS1)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00981}.

Disease Associations

Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]: An autosomal dominant disorder characterized by increased serum red blood cell mass, elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts. {ECO:0000269PubMed:18184961, ECO:0000269PubMed:18378852, ECO:0000269PubMed:19208626, ECO:0000269PubMed:22367913}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in most tissues, with highest levels in placenta, lung and heart. Selectively expressed in endothelial cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 132 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	132 [view]
Protein-Protein	130 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0004871	signal transducer activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0035035	histone acetyltransferase binding
GO:0043565	sequence-specific DNA binding
GO:0046982	protein heterodimerization activity
GO:0046983	protein dimerization activity

Biological Process

GO:0001525	angiogenesis
GO:0001666	response to hypoxia
GO:0001892	embryonic placenta development
GO:0001974	blood vessel remodeling
GO:0002027	regulation of heart rate
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0006979	response to oxidative stress
GO:0007005	mitochondrion organization
GO:0007165	signal transduction
GO:0007601	visual perception
GO:0030097	hemopoiesis
GO:0030154	cell differentiation
GO:0030218	erythrocyte differentiation
GO:0030324	lung development
GO:0042415	norepinephrine metabolic process
GO:0043129	surfactant homeostasis
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048469	cell maturation
GO:0048625	myoblast fate commitment
GO:0061418	regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0071456	cellular response to hypoxia

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005667	transcription factor complex
GO:0005737	cytoplasm
GO:0005829	cytosol

Protein Structure and Domains

PDB ID

InterPro

IPR000014 PAS domain
IPR001067 Nuclear translocator
IPR001610 PAC motif
IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
IPR013655 PAS fold-3
IPR013767 PAS fold
IPR014887 HIF-1 alpha, transactivation domain, C-terminal
IPR021537 Hypoxia-inducible factor, alpha subunit

PFAM