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    EPAS1 endothelial PAS domain protein 1 [ Homo sapiens (human) ]

    Gene ID: 2034, updated on 6-Dec-2016
    Official Symbol
    EPAS1provided by HGNC
    Official Full Name
    endothelial PAS domain protein 1provided by HGNC
    Primary source
    HGNC:HGNC:3374
    See related
    Ensembl:ENSG00000116016 MIM:603349; Vega:OTTHUMG00000128818
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HLF; MOP2; ECYT4; HIF2A; PASD2; bHLHe73
    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]
    Orthologs
    Location:
    2p21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (46297402..46386703)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46524541..46613842)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926974 Neighboring gene uncharacterized LOC105374581 Neighboring gene ribosomal protein L36a pseudogene 14 Neighboring gene uncharacterized LOC105374583 Neighboring gene long intergenic non-protein coding RNA 1820 Neighboring gene uncharacterized LOC101805491

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Erythrocytosis, familial, 4
    MedGen: C2673187 OMIM: 611783 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of endothelial PAS domain protein 1 (EPAS1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed
    Knockdown of endothelial PAS domain protein 1 (EPAS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef increases expression of both VEGF and its transcriptional regulator, hypoxia-inducible factor 2alpha (HIF-2alpha), in a Src kinase-and Stat3-dependent manner PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    histone acetyltransferase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    myoblast fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    norepinephrine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of heart rate IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
    Traceable Author Statement
    more info
     
    regulation of transcription from RNA polymerase II promoter in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    somatic stem cell population maintenance TAS
    Traceable Author Statement
    more info
     
    surfactant homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    transcription factor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Preferred Names
    endothelial PAS domain-containing protein 1
    Names
    EPAS-1
    HIF-1-alpha-like factor
    HIF-1alpha-like factor
    HIF-2-alpha
    HIF2-alpha
    PAS domain-containing protein 2
    basic-helix-loop-helix-PAS protein MOP2
    class E basic helix-loop-helix protein 73
    hypoxia-inducible factor 2 alpha
    member of PAS protein 2

    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.

    Genomic

    1. NG_016000.1 RefSeqGene

      Range
      5001..94302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001430.4NP_001421.2  endothelial PAS domain-containing protein 1

      See identical proteins and their annotated locations for NP_001421.2

      Status: REVIEWED

      Source sequence(s)
      AC016696, AK123845, BC051338, BM671511, CD109908
      Consensus CDS
      CCDS1825.1
      UniProtKB/Swiss-Prot
      Q99814
      UniProtKB/TrEMBL
      B3KW07
      Related
      ENSP00000263734, OTTHUMP00000159033, ENST00000263734, OTTHUMT00000250752
      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:833869
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam11413
      Location:517549
      HIF-1; Hypoxia-inducible factor-1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      46297402..46386703
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532698.2XP_011531000.1  

      Conserved Domains (6) summary
      smart00091
      Location:99160
      PAS; PAS domain
      cd00083
      Location:2581
      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:254353
      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:267354
      PAS_3; PAS fold
      pfam08778
      Location:846882
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam11413
      Location:530562
      HIF-1; Hypoxia-inducible factor-1

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      46455122..46544416
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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