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EPAS1 endothelial PAS domain protein 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001430 Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. GenEZ ORF Cloning On-demand $899.00 20

*Business Day

Related Services

Gene Symbol EPAS1
Entrez Gene ID 2034
Full Name endothelial PAS domain protein 1
Synonyms ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73
General protein information
Preferred Names
endothelial PAS domain-containing protein 1
Names
endothelial PAS domain-containing protein 1
EPAS-1
HIF2-alpha
HIF-2-alpha
HIF-1alpha-like factor
HIF-1-alpha-like factor
member of PAS protein 2
PAS domain-containing protein 2
hypoxia-inducible factor 2 alpha
hypoxia-inducible factor 2-alpha
basic-helix-loop-helix-PAS protein MOP2
class E basic helix-loop-helix protein 73
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

2

2p21-p16

Summary This gene encodes a transcription factor 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. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009].
Disorder

MIM: 603349

Erythrocytosis, familial, 4, 611783 (3)

mRNA Protein Product Sequence Price Select
NM_001430, 262527236 NP_001421, 40254439 endothelial PAS domain-containing protein 1 ORF Sequence $750.00
KEGG
hsa05211Renal cell carcinoma
hsa05200Pathways in cancer
WikiPathways
WP236Adipogenesis
Pathway Interaction Database
vegfr1_2_pathwaySignaling events mediated by VEGFR1 and VEGFR2
hif2pathwayHIF-2-alpha transcription factor network
Reactome
REACT_111045Developmental Biology
REACT_121311Cellular response to hypoxia
REACT_121226Oxygen-dependent asparagine hydroxylation of Hypoxia-inducible Factor Alpha
REACT_121092Regulation of gene expression by Hypoxia-inducible Factor
REACT_120956Cellular responses to stress
REACT_120815Regulation of Hypoxia-inducible Factor (HIF) by oxygen
REACT_120916Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
REACT_200812Transcriptional regulation of pluripotent stem cells
Homo sapiens (human)EPAS1NP_001421.2
Pan troglodytes (chimpanzee)EPAS1XP_001147219.1
Macaca mulatta (Rhesus monkey)EPAS1XP_001112947.2
Canis lupus familiaris (dog)EPAS1XP_005626137.1
Bos taurus (cattle)EPAS1NP_777150.1
Mus musculus (house mouse)Epas1NP_034267.3
Rattus norvegicus (Norway rat)Epas1NP_075578.1
Gallus gallus (chicken)EPAS1NP_990138.1
Danio rerio (zebrafish)epas1bNP_001034895.1
Xenopus (Silurana) tropicalis (western clawed frog)epas1NP_001005647.1
Process
IDNameEvidence
GO:0001525angiogenesisIEA
GO:0001666response to hypoxiaIDA
GO:0001892embryonic placenta developmentIEA
GO:0001974blood vessel remodelingIEA
GO:0002027regulation of heart rateIEA
GO:0006366transcription from RNA polymerase II promoterTAS
GO:0007005mitochondrion organizationIEA
GO:0007165signal transductionIEA
GO:0007601visual perceptionIEA
GO:0030218erythrocyte differentiationIEA
GO:0030324lung developmentIEA
GO:0042415norepinephrine metabolic processIEA
GO:0043129surfactant homeostasisIEA
GO:0043619regulation of transcription from RNA polymerase II promoter in response to oxidative stressIEA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIGI
GO:0048469cell maturationIEA
GO:0048625myoblast fate commitmentISS
GO:0061418regulation of transcription from RNA polymerase II promoter in response to hypoxiaTAS
GO:0071456cellular response to hypoxiaIDA
GO:0071456cellular response to hypoxiaTAS
Component
IDNameEvidence
GO:0005654nucleoplasmTAS
GO:0005667transcription factor complexIDA
GO:0005667transcription factor complexIPI
GO:0005829cytosolTAS
Function
IDNameEvidence
GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionIEA
GO:0003677DNA bindingIGI
GO:0004871signal transducer activityIEA
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIPI
GO:0035035histone acetyltransferase bindingIPI
GO:0043565sequence-specific DNA bindingIDA
GO:0046982protein heterodimerization activityIPI
GeneCards EPAS1
PDB 3F1P, 1P97, 4GHI, 3F1O, 2A24, 3H82, 4GS9, 3F1N, 3H7W
UniProt B3KW07, Q99814
Vega OTTHUMG00000128818
MIM 603349
Ensembl ENSG00000116016
HGNC 3374
HPRD 06787

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the EPAS1 gene?

The EPAS1 gene, often known as HIF2A, provides instructions for making a protein called hypoxia-inducible factor 2-alpha (HIF-2α). This protein is one part (subunit) of a larger protein complex called HIF, which plays a critical role in the body's ability to adapt to changing oxygen levels. HIF controls several important genes involved in cell division, the formation of new blood vessels, and the production of red blood cells. It is the major regulator of a hormone called erythropoietin, which controls red blood cell production.

HIF-2α is constantly produced in the body. When adequate oxygen is available, other proteins target HIF-2α to be broken down (degraded) so it does not build up. However, when oxygen levels are lower than normal (hypoxia), HIF-2α is degraded at a slower rate. Consequently, more HIF is available to stimulate the formation of new blood vessels and the production of red blood cells. These activities help maximize the amount of oxygen that can be delivered to the body's organs and tissues.

Studies suggest that the EPAS1 gene is involved in the body's adaptation to high altitude. At higher altitudes, such as in mountainous regions, air pressure is lower and less oxygen enters the body through the lungs. Over time, the body compensates for the lower oxygen levels by changing breathing patterns and producing more red blood cells and blood vessels.

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