ECE1
The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction.
Full Name
Endothelin Converting Enzyme 1
Research Area
Converts big endothelin-1 to endothelin-1.
Biological Process
Bradykinin catabolic process Source: BHF-UCL
Calcitonin catabolic process Source: BHF-UCL
Ear development Source: BHF-UCL
Embryonic digit morphogenesis Source: BHF-UCL
Endothelin maturation Source: BHF-UCL
G protein-coupled receptor signaling pathway Source: Reactome
Heart development Source: BHF-UCL
Hormone catabolic process Source: BHF-UCL
Peptide hormone processing Source: BHF-UCL
Pharyngeal system development Source: Ensembl
Positive regulation of receptor recycling Source: BHF-UCL
Protein processing Source: BHF-UCL
Regulation of systemic arterial blood pressure by endothelin Source: BHF-UCL
Regulation of vasoconstriction Source: BHF-UCL
Substance P catabolic process Source: BHF-UCL
Calcitonin catabolic process Source: BHF-UCL
Ear development Source: BHF-UCL
Embryonic digit morphogenesis Source: BHF-UCL
Endothelin maturation Source: BHF-UCL
G protein-coupled receptor signaling pathway Source: Reactome
Heart development Source: BHF-UCL
Hormone catabolic process Source: BHF-UCL
Peptide hormone processing Source: BHF-UCL
Pharyngeal system development Source: Ensembl
Positive regulation of receptor recycling Source: BHF-UCL
Protein processing Source: BHF-UCL
Regulation of systemic arterial blood pressure by endothelin Source: BHF-UCL
Regulation of vasoconstriction Source: BHF-UCL
Substance P catabolic process Source: BHF-UCL
Cellular Location
Cell membrane
Involvement in disease
Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD):
A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction.
A disorder characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features, cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal defect, and autonomic dysfunction.
Topology
Cytoplasmic: 1-68
Helical: 69-89
Extracellular: 90-770
Helical: 69-89
Extracellular: 90-770
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Anti-ECE1 antibodies
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CompareTarget: ECE1
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYE-0402
Application*: WB
Target: ECE1
Host: Rat
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBFYE-0401
Application*: P
Target: ECE1
Host: Rat
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYE-0400
Application*: WB
Target: ECE1
Host: Rat
Antibody Isotype: IgG1
Specificity: Human
Clone: 303913
Application*: F, MC
Target: ECE1
Sensitivity: 0.14 ng/mL
Detection Range: 0.3-90 ng/mL
Sample Type: Serum, Plasma, cell culture supernates
Specificity: Human
Assay Type: Sandwich
Reactivity: Human
Target: ECE1
Expressed Host: HEK293 Cells
Sequence: Amino Acid: 90-770
Tag: His Tag
Target: ECE1
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human, Mouse, Rat
Clone: CBFYE-0402
Application*: WB, IP, IF, E, P
Target: ECE1
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human, Mouse, Rat
Clone: CBFYE-0401
Application*: WB, IP, IF, E
Target: ECE1
Host: Rat
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYE-0400
Application*: F
Target: ECE1
Host: Rat
Antibody Isotype: IgG1
Specificity: Human
Clone: E0042
Application*: WB
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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