EPAS1 endothelial PAS domain protein 1 [Bos taurus (domestic cattle)] - Gene

Summary

Official Symbol: EPAS1provided by VGNC
Official Full Name: endothelial PAS domain protein 1provided by VGNC
Primary source: VGNC:VGNC:28518
See related: BGD:BT10968; Ensembl:ENSBTAG00000003711
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Bos taurus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 11

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_09	current	ARS-UCD2.0 (GCF_002263795.3)	11	NC_037338.1 (28735330..28825665)

Chromosome 11 - NC_037338.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_037338.1 Chromosome 11 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

evaluated EPAS1 haplotypes for association with bovine CHF in feedlot cattle raised at moderate altitudes (1,200 m)
Title: Evaluation of EPAS1 variants for association with bovine congestive heart failure.
There was an association of an EPAS1 (HIF2alpha) double variant in the oxygen degradation domain of EPAS1 in Angus cattle with high altitude pulmonary hypertension (HAPH). There was upregulation of 26 of 27 HIF2alpha target genes in EPAS1 carriers with HAPH.
Title: Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension.

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General gene information

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Markers

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

D2S1715E (e-PCR)
- UniSTS:150744

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)

NM_174725.2 → NP_777150.1 endothelial PAS domain-containing protein 1

See identical proteins and their annotated locations for NP_777150.1

Status: PROVISIONAL

Source sequence(s)

AB018399

UniProtKB/TrEMBL

A5PJT1, Q9XTA4

Related

ENSBTAP00000101486.1, ENSBTAT00000127574.1

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:833 → 869

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

pfam11413
Location:516 → 548

HIF-1; Hypoxia-inducible factor-1