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

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 multicellular organismal-level iron ion homeostasis; norepinephrine metabolic process; 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, Oct 2024]
Expression: Biased expression in lung adult (RPKM 363.2), adrenal adult (RPKM 54.3) and 9 other tissues See more
Orthologs: human all
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Genomic context

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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepatic HIF2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiency.
Title: Hepatic HIF2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiency.
Differential but complementary roles of HIF-1alpha and HIF-2alpha in the regulation of bone homeostasis.
Title: Differential but complementary roles of HIF-1α and HIF-2α in the regulation of bone homeostasis.
Positive feedback regulation of lncRNA PVT1 and HIF2alpha contributes to clear cell renal cell carcinoma tumorigenesis and metastasis.
Title: Positive feedback regulation of lncRNA PVT1 and HIF2α contributes to clear cell renal cell carcinoma tumorigenesis and metastasis.
EPAS1 expression contributes to maintenance of the primordial follicle pool in the mouse ovary.
Title: EPAS1 expression contributes to maintenance of the primordial follicle pool in the mouse ovary.
Chronic hypoxia impairs skeletal muscle repair via HIF-2alpha stabilization.
Title: Chronic hypoxia impairs skeletal muscle repair via HIF-2α stabilization.
Activation of Intestinal HIF2alpha Ameliorates Iron-Refractory Anemia.
Title: Activation of Intestinal HIF2α Ameliorates Iron-Refractory Anemia.
PDGFRbeta + cell HIF2alpha is dispensable for white adipose tissue metabolic remodeling and hepatic lipid accumulation in obese mice.
Title: PDGFRβ + cell HIF2α is dispensable for white adipose tissue metabolic remodeling and hepatic lipid accumulation in obese mice.
Hypoxia-inducible factor-2alpha promotes fibrosis in non-alcoholic fatty liver disease by enhancing glutamine catabolism and inhibiting yes-associated protein phosphorylation in hepatic stellate cells.
Title: Hypoxia-inducible factor-2α promotes fibrosis in non-alcoholic fatty liver disease by enhancing glutamine catabolism and inhibiting yes-associated protein phosphorylation in hepatic stellate cells.
Disruption of hypoxia-inducible factor-2alpha in neutrophils decreases colitis-associated colon cancer.
Title: Disruption of hypoxia-inducible factor-2α in neutrophils decreases colitis-associated colon cancer.
Myeloid Hif2alpha is not essential to maintain systemic iron homeostasis.
Title: Myeloid Hif2α is not essential to maintain systemic iron homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (253)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (11) 1 citation
Targeted (12) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH129283 (e-PCR)
- UniSTS:212590

Epas1 (e-PCR), detects polymorphism
- UniSTS:142994

Epas1 (e-PCR), detects polymorphism
- UniSTS:499122

Epas1 (e-PCR), detects polymorphism
- UniSTS:499132

D89787 (e-PCR)
- UniSTS:160705

PMC26957P1 (e-PCR)
- UniSTS:272367

PMC26957P2 (e-PCR)
- UniSTS:272368

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	IEA Inferred from Electronic Annotation 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 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 coactivator binding	ISS Inferred from Sequence or Structural Similarity 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
involved_in cellular response to hypoxia	ISS Inferred from Sequence or Structural Similarity 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 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
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 protein neddylation	ISS Inferred from Sequence or Structural Similarity 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

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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)

NM_010137.3 → NP_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: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:241 → 340

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:254 → 341

PAS_3; PAS fold

pfam08778
Location:837 → 873

HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain

pfam11413
Location:516 → 548

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

NC_000083.7 Reference GRCm39 C57BL/6J

Range

87061292..87140838

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030249471.2 → XP_030105331.1 endothelial PAS domain-containing protein 1 isoform X1

UniProtKB/TrEMBL

Q6PEU2

Conserved Domains (5) summary

smart00091
Location:30 → 91

PAS; PAS domain

pfam11413
Location:461 → 492

HIF-1; Hypoxia-inducible factor-1

pfam08447
Location:198 → 285

PAS_3; PAS fold

pfam08778
Location:781 → 817

HIF-1a_CTAD; HIF-1 alpha C terminal transactivation domain

cl00081
Location:1 → 18

bHLH_SF; basic Helix Loop Helix (bHLH) domain superfamily