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    epas1a endothelial PAS domain protein 1a [ Danio rerio (zebrafish) ]

    Gene ID: 566886, updated on 27-Dec-2024

    Summary

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    Official Symbol
    epas1aprovided by ZNC
    Official Full Name
    endothelial PAS domain protein 1aprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-4490
    See related
    Ensembl:ENSDARG00000008697 AllianceGenome:ZFIN:ZDB-GENE-030131-4490
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    hif-2aa; wu:fd10h02
    Summary
    Predicted to enable DNA-binding transcription factor activity and protein dimerization activity. Acts upstream of or within Notch signaling pathway and hematopoietic stem cell differentiation. Predicted to be located in cytoplasm and nucleus. Predicted to be part of transcription regulator complex. Is expressed in several structures, including digestive system; gill; heart; nervous system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in familial erythrocytosis 4; lung non-small cell carcinoma; polycythemia; and pulmonary hypertension. Orthologous to human EPAS1 (endothelial PAS domain protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See epas1a in Genome Data Viewer
    Location:
    chromosome: 12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 12 NC_007123.7 (25775823..25826151)
    105 previous assembly GRCz10 (GCF_000002035.5) 12 NC_007123.6 (25684402..25735685)

    Chromosome 12 - NC_007123.7Genomic Context describing neighboring genes Neighboring gene SIX homeobox 2b Neighboring gene protein kinase C, epsilon a Neighboring gene si:dkey-193p11.2 Neighboring gene glutamate dehydrogenase 1b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. De Novo Germline and Somatic Variants Convergently Promote Endothelial-to-Mesenchymal Transition in Simplex Brain Arteriovenous Malformation. Li H, et al. Circ Res, 2021 Oct 15. PMID 34530633
    2. Analysis of hypoxia-inducible factor alpha polyploidization reveals adaptation to Tibetan Plateau in the evolution of schizothoracine fish. Guan L, et al. BMC Evol Biol, 2014 Aug 28. PMID 25205386, Free PMC Article
    3. Deletion of prolyl hydroxylase domain-containing enzyme 3 (phd3) in zebrafish facilitates hypoxia tolerance. Liao Q, et al. J Biol Chem, 2023 Dec. PMID 37923141, Free PMC Article
    4. Subfunctionalization of cyprinid hypoxia-inducible factors for roles in development and oxygen sensing. Rytkönen KT, et al. Evolution, 2013 Mar. PMID 23461336
    5. Transcriptional divergence of the duplicated hypoxia-inducible factor alpha genes in zebrafish. Rytkönen KT, et al. Gene, 2014 May 10. PMID 24613281

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within Notch signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within Notch signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within hematopoietic stem cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within hematopoietic stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    endothelial PAS domain-containing protein 1
    Names
    HIF2B

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007123.7 Reference GRCz11 Primary Assembly

      Range
      25775823..25826151
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_690170.10 → XP_695262.6  endothelial PAS domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A8N7UR89
      Conserved Domains (6) summary
      smart00091
      Location:86 → 147
      PAS; PAS domain
      cd00083
      Location:12 → 68
      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:240 → 339
      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:253 → 340
      PAS_3; PAS fold
      pfam08778
      Location:806 → 842
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam11413
      Location:522 → 554
      HIF-1; Hypoxia-inducible factor-1

    2. XM_005156297.5 → XP_005156354.1  endothelial PAS domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A8M2B2M0, E7FAJ1
      Related
      ENSDARP00000021260.9, ENSDART00000024415.9
      Conserved Domains (6) summary
      smart00091
      Location:86 → 147
      PAS; PAS domain
      cd00083
      Location:12 → 68
      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:240 → 339
      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:253 → 340
      PAS_3; PAS fold
      pfam08778
      Location:805 → 841
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam11413
      Location:522 → 554
      HIF-1; Hypoxia-inducible factor-1

    3. XM_009306741.4 → XP_009305016.1  endothelial PAS domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      A0A8M3B7J1, F8W2W5
      Related
      ENSDARP00000124584.1, ENSDART00000149198.2
      Conserved Domains (6) summary
      smart00091
      Location:86 → 147
      PAS; PAS domain
      cd00083
      Location:12 → 68
      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:240 → 339
      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:253 → 340
      PAS_3; PAS fold
      pfam08778
      Location:773 → 809
      HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain
      pfam11413
      Location:522 → 554
      HIF-1; Hypoxia-inducible factor-1

    4. XM_068224778.1 → XP_068080879.1  endothelial PAS domain-containing protein 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version

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