EPAS1
Encyclopedia
Endothelial PAS domain-containing protein 1 is a protein
that in humans is encoded by the EPAS1 gene
.
involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix
domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels.
familial type 4 and pulmonary hypertension
.
There is also evidence that certain variants of this gene provide protection for people living at high altitude.
with Aryl hydrocarbon receptor nuclear translocator
and ARNTL
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the EPAS1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
This gene encodes a transcription factorTranscription factor
In molecular biology and genetics, a transcription factor is a protein that binds to specific DNA sequences, thereby controlling the flow of genetic information from DNA to mRNA...
involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix
Basic-helix-loop-helix
A basic helix-loop-helix is a protein structural motif that characterizes a family of transcription factors.- Structure :The motif is characterized by two α-helices connected by a loop. In general, transcription factors including this domain are dimeric, each with one helix containing basic amino...
domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels.
Clinical significance
Mutations in this gene are associated with erythrocytosisPolycythemia
Polycythemia is a disease state in which the proportion of blood volume that is occupied by red blood cells increases...
familial type 4 and pulmonary hypertension
Pulmonary hypertension
In medicine, pulmonary hypertension is an increase in blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, together known as the lung vasculature, leading to shortness of breath, dizziness, fainting, and other symptoms, all of which are exacerbated by exertion...
.
There is also evidence that certain variants of this gene provide protection for people living at high altitude.
Interactions
EPAS1 has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with Aryl hydrocarbon receptor nuclear translocator
Aryl hydrocarbon receptor nuclear translocator
The ARNT gene encodes the aryl hydrocarbon receptor nuclear translocator protein that forms a complex with ligand-bound aryl hydrocarbon receptor , and is required for receptor function. The encoded protein has also been identified as the beta subunit of a heterodimeric transcription factor,...
and ARNTL
ARNTL
Aryl hydrocarbon receptor nuclear translocator-like, also known as ARNTL, Bmal1, or Mop3, is a gene which is associated with susceptibility to hypertension and type 2 diabetes.-Function:...
.