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EPAS1

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]
Full Name
EPAS1
Research Area
Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity).

Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX1 seems to activate CTAD (By similarity).
Biological Process
Angiogenesis Source: UniProtKB-KW
Blood vessel remodeling Source: Ensembl
Cell maturation Source: Ensembl
Cellular response to hypoxia Source: UniProtKB
Embryonic placenta development Source: Ensembl
Erythrocyte differentiation Source: Ensembl
Iron ion homeostasis Source: Ensembl
Lung development Source: Ensembl
Mitochondrion organization Source: Ensembl
Myoblast fate commitment Source: BHF-UCL
Norepinephrine metabolic process Source: Ensembl
Positive regulation of cold-induced thermogenesis Source: YuBioLab
Positive regulation of transcription by RNA polymerase II Source: UniProtKB
Regulation of heart rate Source: Ensembl
Regulation of protein neddylation Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Regulation of transcription from RNA polymerase II promoter in response to oxidative stress Source: Ensembl
Response to hypoxia Source: MGI
Signal transduction Source: ProtInc
Surfactant homeostasis Source: Ensembl
Visual perception Source: Ensembl
Cellular Location
Nucleus; Nucleus speckle. Colocalizes with HIF3A in the nucleus and speckles.
Involvement in disease
Erythrocytosis, familial, 4 (ECYT4):
An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal platelet and leukocyte counts.
PTM
In normoxia, is probably hydroxylated on Pro-405 and Pro-531 by EGLN1/PHD1, EGLN2/PHD2 and/or EGLN3/PHD3. The hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization (By similarity).By similarity
In normoxia, is hydroxylated on Asn-847 by HIF1AN thus probably abrogating interaction with CREBBP and EP300 and preventing transcriptional activation.By similarity
Phosphorylated on multiple sites in the CTAD.By similarity
The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains.By similarity

Anti-EPAS1 antibodies

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Submit A Review Fig.3 Signaling pathways in cancers. (Creative Biolabs Authorized) Fig.4 Protocols troubleshootings & guides. (Creative Biolabs Authorized) Submit A Review Fig.3 Signaling pathways in cancers. (Creative Biolabs Authorized) Fig.4 Protocols troubleshootings & guides. (Creative Biolabs Authorized)
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Mouse
Clone: EP190B
Application*: ELISA, IF, IHC, WB
Target: EPAS1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: CB-95-1A2
Application*: WB, IP, IHC, ICC, ICC-IF, ChIP-Seq
Target: EPAS1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: D6T8V
Application*: WB, CI
Target: EPAS1
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: D9E3
Application*: WB
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: 1G2
Application*: WB, E
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: Hif2a 237
Application*: E, IH, WB
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Rat
Clone: CBFYH-3410
Application*: F, IH, WB
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG
Specificity: Human, Mouse, Rat
Clone: CBFYH-3409
Application*: IH, WB
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYH-3407
Application*: E, IH, IP, WB
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human, Mouse, Rat
Clone: CBFYH-3406
Application*: WB, P
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYH-0153
Application*: E, IF, WB
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Mouse, Rat, Human
Clone: CBFYH-0152
Application*: WB
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: CBFYH-2952
Application*: P
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYE-0923
Application*: E, IF, WB
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYE-0922
Application*: WB
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: Hif2alpha237
Application*: C
Target: EPAS1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: EP190b
Application*: E, IC, P, WB
More Infomation
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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