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

Gene ID: 13819, updated on 2-Apr-2024

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 AllianceGenome:MGI:109169
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
HLF; HRF; MOP2; HIF2A; bHLHe73; HIF-2alpha
Summary
Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein heterodimerization activity. Involved in mRNA transcription by RNA polymerase II; myoblast fate commitment; and positive regulation of cold-induced thermogenesis. Acts upstream of or within several processes, including animal organ development; regulation of transcription by RNA polymerase II; and surfactant homeostasis. Located in cytoplasm and nuclear speck. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and respiratory system. Used to study newborn respiratory distress syndrome. 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, Apr 2022]
Expression
Biased expression in lung adult (RPKM 363.2), adrenal adult (RPKM 54.3) and 9 other tissues See more
Orthologs
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Genomic context

See Epas1 in Genome Data Viewer
Location:
17 E4; 17 56.9 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 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)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 52297 Neighboring gene STARR-positive B cell enhancer mm9_chr17:87102943-87103244 Neighboring gene aldo-keto reductase family 1, member B8 pseudogene Neighboring gene STARR-seq mESC enhancer starr_43489 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:87131580-87131689 Neighboring gene STARR-seq mESC enhancer starr_43493 Neighboring gene STARR-seq mESC enhancer starr_43494 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:87201221-87201489 Neighboring gene STARR-seq mESC enhancer starr_43496 Neighboring gene STARR-positive B cell enhancer ABC_E11652 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

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
 
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
 
enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
Inferred from Sequence Orthology
more info
 
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 
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 
involved_in cellular response to hypoxia IBA
Inferred from Biological aspect of Ancestor
more info
 
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 epithelial cell maturation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within erythrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gene expression 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 lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
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
 
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
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
 
involved_in regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
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
 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 transcription by RNA polymerase II 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 nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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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_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
    O08787, O55046, P97481
    UniProtKB/TrEMBL
    Q6PEU2
    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: GCF_000001635.27-RS_2024_02

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

    UniProtKB/TrEMBL
    Q6PEU2
    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