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EPAS1 endothelial PAS domain protein 1 [ Gallus gallus (chicken) ]

Gene ID: 395596, updated on 3-Apr-2024

Summary

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Symbol
EPAS1provided by CGNC
Full Name
endothelial PAS domain protein 1provided by CGNC
Primary source
CGNC:49393
See related
Ensembl:ENSGALG00010018414
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Gallus gallus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
Also known as
HIF2a
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: 3
Exon count:
18
Annotation release Status Assembly Chr Location
106 current bGalGal1.mat.broiler.GRCg7b (GCF_016699485.2) 3 NC_052534.1 (26202113..26321576)
106 current bGalGal1.pat.whiteleghornlayer.GRCg7w (GCF_016700215.2) 3 NC_052575.1 (26129306..26248579)

Chromosome 3 - NC_052534.1Genomic Context describing neighboring genes Neighboring gene S1 RNA binding domain 1 Neighboring gene uncharacterized LOC107052922 Neighboring gene protein kinase C epsilon Neighboring gene uncharacterized LOC101751252 Neighboring gene uncharacterized LOC107052973 Neighboring gene ras homolog family member Q Neighboring gene phosphatidylinositol glycan anchor biosynthesis class F

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A non-synonymous SNP with the allele frequency correlated with the altitude may contribute to the hypoxia adaptation of Tibetan chicken. Li S, et al. PLoS One, 2017. PMID 28222154, Free PMC Article
  2. Cloning and expression pattern of EPAS1 in the chicken embryo. Colocalization with tyrosine hydroxylase. Favier J, et al. FEBS Lett, 1999 Nov 26. PMID 10580084
  3. Hypoxia inducible factor-2α importance for migration, proliferation, and self-renewal of trunk neural crest cells. Niklasson CU, et al. Dev Dyn, 2021 Feb. PMID 32940375, Free PMC Article
  4. Tibial dyschondroplasia is closely related to suppression of expression of hypoxia-inducible factors 1α, 2α, and 3α in chickens. Huang S, et al. J Vet Sci, 2018 Jan 31. PMID 28693310, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hypoxia inducible factor-2alpha importance for migration, proliferation, and self-renewal of trunk neural crest cells.
    Title: Hypoxia inducible factor-2α importance for migration, proliferation, and self-renewal of trunk neural crest cells.
  2. HIF-1alpha, -2alpha, and -3alpha expressions in the tibial growth plate of Tibetan chickens were upregulated by hypoxia and the change was more significant than in Arbor Acres chickens.
    Title: Tibial dyschondroplasia is closely related to suppression of expression of hypoxia-inducible factors 1α, 2α, and 3α in chickens.
  3. Among Tibetan chickens from different altitudes, 6 SNPS were found: 2 missense mutations (SNP3 rs316126786 and SNP5 rs740389732) and 4 synonymous mutations (SNP1 rs315040213, SNP4 rs739281102, SNP6 rs739010166, and SNP2 rs14330062). SNPS 3 and 6 correlated negatively with altitude. SNP3 (Y333C) in the PAS domain is a conserved site among species and is the most likely causal mutation for high-altitude adaptation.
    Title: A non-synonymous SNP with the allele frequency correlated with the altitude may contribute to the hypoxia adaptation of Tibetan chicken.
Submit: New GeneRIF Correction

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 PubMed 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
endothelial PAS domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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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_204807.3 → NP_990138.2  endothelial PAS domain-containing protein 1

    Status: PROVISIONAL

    Source sequence(s)
    JAENSK010000063
    UniProtKB/TrEMBL
    Q9W7C6
    Related
    ENSGALP00010026483.1, ENSGALT00010044491.1
    Conserved Domains (3) summary
    smart00091
    Location:86 → 147
    PAS; PAS domain
    pfam08447
    Location:253 → 340
    PAS_3; PAS fold
    cd19728
    Location:9 → 74
    bHLH-PAS_HIF2a_PASD2; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 2-alpha (HIF2a) and similar proteins

RefSeqs of Annotated Genomes: Gallus gallus Annotation Release 106 details...Open this link in a new tab

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

Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

Genomic

  1. NC_052534.1 Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

    Range
    26202113..26321576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_046938431.1 → XP_046794387.1  endothelial PAS domain-containing protein 1 isoform X3

  2. XM_015283618.4 → XP_015139104.2  endothelial PAS domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    A0A218NER6
    Conserved Domains (3) summary
    smart00091
    Location:90 → 151
    PAS; PAS domain
    pfam08447
    Location:257 → 344
    PAS_3; PAS fold
    cd19728
    Location:14 → 78
    bHLH-PAS_HIF2a_PASD2; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 2-alpha (HIF2a) and similar proteins

  3. XM_015283619.4 → XP_015139105.2  endothelial PAS domain-containing protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A218NER6
    Conserved Domains (3) summary
    smart00091
    Location:90 → 151
    PAS; PAS domain
    pfam08447
    Location:257 → 344
    PAS_3; PAS fold
    cd19728
    Location:14 → 78
    bHLH-PAS_HIF2a_PASD2; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in hypoxia-inducible factor 2-alpha (HIF2a) and similar proteins

  4. XM_046938428.1 → XP_046794384.1  endothelial PAS domain-containing protein 1 isoform X3

  5. XM_046938430.1 → XP_046794386.1  endothelial PAS domain-containing protein 1 isoform X3

  6. XM_046938429.1 → XP_046794385.1  endothelial PAS domain-containing protein 1 isoform X3

    Related
    ENSGALP00010026477.1, ENSGALT00010044484.1

Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

Genomic

  1. NC_052575.1 Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

    Range
    26129306..26248579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_046913012.1 → XP_046768968.1  endothelial PAS domain-containing protein 1 isoform X3

  2. XM_046913007.1 → XP_046768963.1  endothelial PAS domain-containing protein 1 isoform X1

  3. XM_046913008.1 → XP_046768964.1  endothelial PAS domain-containing protein 1 isoform X2

  4. XM_046913009.1 → XP_046768965.1  endothelial PAS domain-containing protein 1 isoform X3

  5. XM_046913011.1 → XP_046768967.1  endothelial PAS domain-containing protein 1 isoform X3

  6. XM_046913010.1 → XP_046768966.1  endothelial PAS domain-containing protein 1 isoform X3

Nucleotide Protein Strain
Heading Accession and Version

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