Version 5.4
Homo sapiens Gene: EPAS1
Summary
InnateDB Gene IDBG-50208.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EPAS1
Gene Name endothelial PAS domain protein 1
Synonyms bHLHe73; ECYT4; HIF2A; HLF; MOP2; PASD2
Species Homo sapiens
Ensembl Gene ENSG00000116016
Encoded Proteins
IDBP-50212
endothelial PAS domain protein 1
IDBP-374597
endothelial PAS domain protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:46293667-46386703
Strand Forward strand
Band p21
Transcripts
ENST00000263734 ENSP00000263734
ENST00000449347 ENSP00000406137
ENST00000460015
ENST00000467888
ENST00000475822
ENST00000463191
ENST00000483692
ENST00000466465
ENST00000465318
ENST00000468530
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000024140
View Gene Order
ENSBTAG00000003711
Not yet available
Pathways
NETPATH
REACTOME
REACT_120916
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha pathway
REACT_121092
Regulation of gene expression by Hypoxia-inducible Factor pathway
REACT_121226
Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha pathway
REACT_120956
Cellular responses to stress pathway
REACT_111045
Developmental Biology pathway
REACT_200812
Transcriptional regulation of pluripotent stem cells pathway
REACT_120815
Regulation of Hypoxia-inducible Factor (HIF) by oxygen pathway
REACT_121311
Cellular response to hypoxia pathway
KEGG
hsa05211
Renal cell carcinoma pathway
hsa05200
Pathways in cancer pathway
INOH
PID NCI
hif2pathway
HIF-2-alpha transcription factor network
Cross-References
SwissProt
TrEMBL C9J9N2
UniProt Splice Variant
Entrez Gene 2034
UniGene Hs.468410 Hs.612254
RefSeq NM_001430
HUGO HGNC:3374
OMIM 603349
CCDS CCDS1825
HPRD 06787
IMGT
EMBL AC016696 AC016912
GenPept
RNA Seq Atlas 2034

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca