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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu23001 NM_001430 Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu23001C NM_001430 Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. Customized vector On-demand 12-14 $329.00

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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?

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