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    Epas1 endothelial PAS domain protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 13819, updated on 27-Jul-2021

    Summary

    Official Symbol
    Epas1provided by MGI
    Official Full Name
    endothelial PAS domain protein 1provided by MGI
    Primary source
    MGI:MGI:109169
    See related
    Ensembl:ENSMUSG00000024140
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HL; HR; MO; HIF; HLF; HRF; MOP2; HIF-2; HIF2A; bHLHe7; bHLHe73; HIF-2alpha
    Expression
    Biased expression in lung adult (RPKM 363.2), adrenal adult (RPKM 54.3) and 9 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Epas1 in Genome Data Viewer
    Location:
    17; 17 E4
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (87061292..87140838)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (86753864..86833410)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 17 NC_000083.5 (87153204..87232750)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52297 Neighboring gene aldo-keto reductase family 1, member B8 pseudogene Neighboring gene transmembrane protein 247 Neighboring gene ATPase, H+ transporting, lysosomal V1 subunit E2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cobalt ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription coactivator binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood vessel remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cell maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to hypoxia IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within embryonic placenta development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within iron ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myoblast fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in norepinephrine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within norepinephrine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of dopamine biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein neddylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within regulation of transcription from RNA polymerase II promoter in response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT acts_upstream_of_or_within regulation of transcription from RNA polymerase II promoter in response to oxidative stress IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of transcription from RNA polymerase II promoter in response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to oxidative stress IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within surfactant homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription regulator complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    endothelial PAS domain-containing protein 1
    Names
    EPAS-1
    HIF-1-alpha-like factor
    HIF-2-alpha
    HIF-related factor
    HIF1 alpha-like factor
    HIF1alpha-like factor
    HIF2-alpha
    HLF (HIF1alpha-like factor)
    Hif like protein
    hypoxia inducible transcription factor 2alpha
    hypoxia-inducible factor 2-alpha
    mHLF

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_010137.3NP_034267.3  endothelial PAS domain-containing protein 1

      See identical proteins and their annotated locations for NP_034267.3

      Status: VALIDATED

      Source sequence(s)
      AC096777, AK136911, AK141185, D89787, U81983
      Consensus CDS
      CCDS37713.1
      UniProtKB/Swiss-Prot
      P97481
      Related
      ENSMUSP00000024954.10, ENSMUST00000024954.11
      Conserved Domains (6) summary
      smart00091
      Location:86147
      PAS; PAS domain
      cd00083
      Location:1268
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
      cd00130
      Location:241340
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam08447
      Location:254341
      PAS_3; PAS fold
      pfam08778
      Location:837873
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam11413
      Location:516548
      HIF-1; Hypoxia-inducible factor-1

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      87061292..87140838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030249471.2XP_030105331.1  endothelial PAS domain-containing protein 1 isoform X1

      Conserved Domains (5) summary
      smart00091
      Location:3091
      PAS; PAS domain
      pfam11413
      Location:461492
      HIF-1; Hypoxia-inducible factor-1
      pfam08447
      Location:198285
      PAS_3; PAS fold
      pfam08778
      Location:781817
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      cl00081
      Location:118
      bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily
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