Epas1 endothelial PAS domain protein 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Epas1provided by RGD
Official Full Name: endothelial PAS domain protein 1provided by RGD
Primary source: RGD:68404
See related: Ensembl:ENSRNOG00000021318 AllianceGenome:RGD:68404
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: HLF; Hif2a; HIF2 alpha; HIF-2 alpha
Summary: Enables DNA-binding transcription factor activity and cobalt ion binding activity. Contributes to sequence-specific DNA binding activity. Involved in several processes, including norepinephrine biosynthetic process; positive regulation of lung alveolus development; and regulation of cellular biosynthetic process. Located in cytoplasm and nucleus. Used to study acute kidney failure and intermittent claudication. Biomarker of artery disease (multiple); glucose metabolism disease (multiple); polycystic kidney disease; and renal cell carcinoma. 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 (RPKM 1703.8), Heart (RPKM 329.3) and 6 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 6q12

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	6	NC_086024.1 (13543252..13626147, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	6	NC_051341.1 (7790236..7871717, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	6	NC_005105.4 (10306508..10385239)

Chromosome 6 - NC_086024.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hypoxia-inducible factor expression is related to apoptosis and cartilage degradation in temporomandibular joint osteoarthritis.
Title: Hypoxia-inducible factor expression is related to apoptosis and cartilage degradation in temporomandibular joint osteoarthritis.
Hypoxia-inducible factor 2alpha is a novel inhibitor of chondrocyte maturation.
Title: Hypoxia-inducible factor 2α is a novel inhibitor of chondrocyte maturation.
Hypoxia-inducible factor 2-alpha-dependent induction of IL-6 protects the heart from ischemia/reperfusion injury.
Title: Hypoxia-inducible factor 2-alpha-dependent induction of IL-6 protects the heart from ischemia/reperfusion injury.
Skin Ultrastructure and the Changes of HIF-2alpha, H-FABP Expression in the Myocardium of Electric Shock Death Rats.
Title: Skin Ultrastructure and the Changes of HIF-2α, H-FABP Expression in the Myocardium of Electric Shock Death Rats.
Gamma-Aminobutyric Acid Increases Erythropoietin by Activation of Citrate Cycle and Stimulation of Hypoxia-Inducible Factors Expression in Rats.
Title: Gamma-Aminobutyric Acid Increases Erythropoietin by Activation of Citrate Cycle and Stimulation of Hypoxia-Inducible Factors Expression in Rats.
Suppression of HIF2 signalling attenuates the initiation of hypoxia-induced pulmonary hypertension.
Title: Suppression of HIF2 signalling attenuates the initiation of hypoxia-induced pulmonary hypertension.
Effect of whole body vibration on HIF-2alpha expression in SD rats with early knee osteoarthritis.
Title: Effect of whole body vibration on HIF-2α expression in SD rats with early knee osteoarthritis.
HIF2alpha is detected to be higher in renal cells and is responsible for erythropoietin production.
Title: Serum and Tissue HIF-2 Alpha Expression in CIN, N-Acetyl Cysteine, and Sildenafil-Treated Rat Models: An Experimental Study.
HIF-2alpha up-regulates the expression of FoxM1 and promotes the proliferation of pulmonary artery smooth muscle cells in hypoxic rats
Title: [Effect of HIF-2α mediated FoxM1 expression on proliferation of pulmonary artery smooth muscle cells in hypoxic rats].
Over-expressed lenti-EPAS1 can promote angiogenesis via the up-regulation of EPAS1-related angiogenic factors in the muscles of the affected hind limb and reduce gait disturbance.
Title: [Intramuscular injection of lentivirus-mediated EPAS1 gene improves hind limb ischemia and its mechanism in a rat model of peripheral artery vascular disease].

Submit: New GeneRIF Correction See all GeneRIFs (50)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
enables cobalt ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
contributes_to 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 sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator binding	IEA Inferred from Electronic Annotation more info
enables transcription coactivator binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in blood vessel remodeling	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within blood vessel remodeling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
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
involved_in cellular response to interleukin-1	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to lipopolysaccharide	IEP Inferred from Expression Pattern more info	PubMed
involved_in embryonic placenta development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic placenta development	ISO Inferred from Sequence Orthology more info
involved_in epithelial cell maturation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within epithelial cell maturation	ISO Inferred from Sequence Orthology more info
involved_in erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within erythrocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gene expression	ISO Inferred from Sequence Orthology more info
involved_in gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hemopoiesis	ISO Inferred from Sequence Orthology more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lung development	ISO Inferred from Sequence Orthology more info
involved_in mRNA transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in mRNA transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in mitochondrion organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mitochondrion organization	ISO Inferred from Sequence Orthology more info
involved_in multicellular organismal-level iron ion homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in myoblast fate commitment	IEA Inferred from Electronic Annotation more info
involved_in myoblast fate commitment	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in norepinephrine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in norepinephrine metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within norepinephrine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cold-induced thermogenesis	ISO Inferred from Sequence Orthology 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 dopamine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of lung alveolus development	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
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
involved_in regulation of heart rate	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of heart rate	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein neddylation	IEA Inferred from Electronic Annotation more info
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	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to hypoxia	ISO Inferred from Sequence Orthology more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in surfactant homeostasis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within surfactant homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within visual perception	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info
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-2-alpha; HIF2-alpha; hypoxia inducible factor 2, alpha subunit; hypoxia inducible factor 2a; hypoxia-inducible factor 2-alpha

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_023090.2 → NP_075578.2 endothelial PAS domain-containing protein 1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000006

UniProtKB/TrEMBL

A6H9F5

Conserved Domains (3) summary

smart00091
Location:86 → 147

PAS; PAS domain

pfam08447
Location:254 → 341

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: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086024.1 Reference GRCr8

Range

13543252..13626147 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063261583.1 → XP_063117653.1 endothelial PAS domain-containing protein 1 isoform X3

UniProtKB/TrEMBL

A0A0G2K9J6
XM_039111847.2 → XP_038967775.1 endothelial PAS domain-containing protein 1 isoform X5

UniProtKB/TrEMBL

A6H9F5

Related

ENSRNOP00000033874.7

Conserved Domains (5) summary

smart00091
Location:84 → 145

PAS; PAS domain

pfam08447
Location:252 → 339

PAS_3; PAS fold

cd19728
Location:8 → 72

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

pfam08778
Location:836 → 871

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

pfam11413
Location:514 → 546

HIF-1; Hypoxia-inducible factor-1
XM_063261584.1 → XP_063117654.1 endothelial PAS domain-containing protein 1 isoform X4
XM_039111846.2 → XP_038967774.2 endothelial PAS domain-containing protein 1 isoform X2
XM_063261582.1 → XP_063117652.1 endothelial PAS domain-containing protein 1 isoform X1