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

    Gene ID: 2034, updated on 6-Jun-2024

    Summary

    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; AllianceGenome:HGNC:3374
    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]
    Expression
    Broad expression in lung (RPKM 304.3), placenta (RPKM 244.1) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See EPAS1 in Genome Data Viewer
    Location:
    2p21
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (46297407..46386697)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (46302427..46391719)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46524546..46613836)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protein kinase C epsilon Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:46234481-46235680 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:46242352-46242990 Neighboring gene ribosomal protein L26 pseudogene 15 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:46294453-46295652 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:46344077-46345276 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:46371061-46371560 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:46395156-46395343 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:46398401-46398983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:46406387-46406887 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:46456039-46457023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15701 Neighboring gene uncharacterized LOC101926974 Neighboring gene uncharacterized LOC105374581 Neighboring gene Sharpr-MPRA regulatory region 5165 Neighboring gene Sharpr-MPRA regulatory region 3071 Neighboring gene ribosomal protein L36a pseudogene 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:46518393-46518894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11447 Neighboring gene Sharpr-MPRA regulatory region 14137 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:46587586-46588785 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:46611587-46612086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:46620302-46620802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:46620803-46621303 Neighboring gene uncharacterized LOC124907762 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:46636005-46636579 Neighboring gene long intergenic non-protein coding RNA 1820

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to hypoxia IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal-level iron ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myoblast fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in norepinephrine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of heart rate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein neddylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in surfactant homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    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.

    Genomic

    1. NG_016000.1 RefSeqGene

      Range
      5006..94296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001430.5NP_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, CD109908
      Consensus CDS
      CCDS1825.1
      UniProtKB/Swiss-Prot
      Q86VA2, Q99630, Q99814
      UniProtKB/TrEMBL
      Q53SM6
      Related
      ENSP00000263734.3, ENST00000263734.5
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      46297407..46386697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532698.3XP_011531000.1  endothelial PAS domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      Q53SM6
      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 T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      46302427..46391719
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341015.1XP_054196990.1  endothelial PAS domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      Q53SM6