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Gene Ontology Classifications
endothelial PAS domain protein 1

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Epas1. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of August 1, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. An HJ et al. (2011) The survival effect of mitochondrial Higd-1a is associated with suppression of cytochrome C release and prevention of caspase activation. Biochim Biophys Acta, 1813:2088-98. (PubMed:21856340)
  2. Compernolle V et al. (2002) Loss of HIF-2alpha and inhibition of VEGF impair fetal lung maturation, whereas treatment with VEGF prevents fatal respiratory distress in premature mice. Nat Med, 8:702-10. (PubMed:12053176)
  3. Cowden Dahl KD et al. (2005) Hypoxia-inducible factors 1alpha and 2alpha regulate trophoblast differentiation. Mol Cell Biol, 25:10479-91. (PubMed:16287860)
  4. Ding K et al. (2005) Retinal Disease in Mice Lacking Hypoxia-Inducible Transcription Factor-2{alpha}. Invest Ophthalmol Vis Sci, 46:1010-6. (PubMed:15728559)
  5. Duan LJ et al. (2005) Endothelium-intrinsic requirement for Hif-2alpha during vascular development. Circulation, 111:2227-32. (PubMed:15851592)
  6. Elvert G et al. (2003) Cooperative interaction of hypoxia-inducible factor-2alpha (HIF-2alpha ) and Ets-1 in the transcriptional activation of vascular endothelial growth factor receptor-2 (Flk-1). J Biol Chem, 278:7520-30. (PubMed:12464608)
  7. Ema M et al. (1997) A novel bHLH-PAS factor with close sequence similarity to hypoxia-inducible factor 1alpha regulates the VEGF expression and is potentially involved in lung and vascular development. Proc Natl Acad Sci U S A, 94:4273-8. (PubMed:9113979)
  8. Gruber M et al. (2007) Acute postnatal ablation of Hif-2alpha results in anemia. Proc Natl Acad Sci U S A, 104:2301-6. (PubMed:17284606)
  9. Mastrogiannaki M et al. (2012) Deletion of HIF-2alpha in the enterocytes decreases the severity of tissue iron loading in hepcidin knockout mice. Blood, 119:587-90. (PubMed:22128145)
  10. Oktay Y et al. (2007) Hypoxia-inducible factor 2alpha regulates expression of the mitochondrial aconitase chaperone protein frataxin. J Biol Chem, 282:11750-6. (PubMed:17322295)
  11. Park SK et al. (2003) Hypoxia-induced gene expression occurs solely through the action of hypoxia-inducible factor 1alpha (HIF-1alpha): role of cytoplasmic trapping of HIF-2alpha. Mol Cell Biol, 23:4959-71. (PubMed:12832481)
  12. Peng J et al. (2000) The transcription factor EPAS-1/hypoxia-inducible factor 2alpha plays an important role in vascular remodeling. Proc Natl Acad Sci U S A, 97:8386-91. (PubMed:10880563)
  13. Rankin EB et al. (2007) Hypoxia-inducible factor-2 (HIF-2) regulates hepatic erythropoietin in vivo. J Clin Invest, 117:1068-77. (PubMed:17404621)
  14. Rasbach KA et al. (2010) PGC-1{alpha} regulates a HIF2{alpha}-dependent switch in skeletal muscle fiber types. Proc Natl Acad Sci U S A, null:null. (PubMed:21106753)
  15. Scortegagna M et al. (2003) Multiple organ pathology, metabolic abnormalities and impaired homeostasis of reactive oxygen species in Epas1-/- mice. Nat Genet, 35:331-40. (PubMed:14608355)
  16. Scortegagna M et al. (2003) The HIF family member EPAS1/HIF-2alpha is required for normal hematopoiesis in mice. Blood, 102:1634-40. (PubMed:12750163)
  17. Scortegagna M et al. (2005) HIF-2alpha regulates murine hematopoietic development in an erythropoietin-dependent manner. Blood, 105:3133-40. (PubMed:15626745)
  18. Tian H et al. (1998) The hypoxia-responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development. Genes Dev, 12:3320-4. (PubMed:9808618)
  19. Torii S et al. (2011) Pro-apoptotic activity of inhibitory PAS domain protein (IPAS), a negative regulator of HIF-1, through binding to pro-survival Bcl-2 family proteins. Cell Death Differ, 18:1711-25. (PubMed:21546903)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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