EDN1 (endothelin 1)

2007-02-01  

Identity

HGNC
LOCATION
6p24.1
LOCUSID
ALIAS
ARCND3,ET1,HDLCQ7,PPET1,QME

Other Information

Locus ID:

NCBI: 1906
MIM: 131240
HGNC: 3176
Ensembl: ENSG00000078401

Variants:

dbSNP: 1906
ClinVar: 1906
TCGA: ENSG00000078401
COSMIC: EDN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078401ENST00000379375P05305
ENSG00000078401ENST00000379375Q6FH53

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
MelanogenesisKEGGko04916
MelanogenesisKEGGhsa04916
HIF-1 signaling pathwayKEGGhsa04066
TNF signaling pathwayKEGGhsa04668
TNF signaling pathwayKEGGko04668
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA130232992bevacizumabChemicalClinicalAnnotationassociatedPD27139155
PA162356187muraglitazarChemicalClinicalAnnotationassociatedPD18794727
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociatedPD27139155
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD18794727
PA443994EdemaDiseaseClinicalAnnotationassociatedPD18794727
PA444528HyperlipidemiasDiseaseClinicalAnnotationassociatedPD18794727
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD15188945
PA448499atenololChemicalClinicalAnnotationassociatedPD15188945
PA450084irbesartanChemicalClinicalAnnotationassociatedPD15188945

References

Pubmed IDYearTitleCitations
204979762010Endothelial cell-derived endothelin-1 promotes cardiac fibrosis in diabetic hearts through stimulation of endothelial-to-mesenchymal transition.113
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
150478662004Endothelin-1 promotes myofibroblast induction through the ETA receptor via a rac/phosphoinositide 3-kinase/Akt-dependent pathway and is essential for the enhanced contractile phenotype of fibrotic fibroblasts.97
129418662003A causal role for endothelin-1 in the pathogenesis of osteoblastic bone metastases.93
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
154666272004Endothelium-restricted overexpression of human endothelin-1 causes vascular remodeling and endothelial dysfunction.76
287534272017A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression.67
168097842006Constitutive ALK5-independent c-Jun N-terminal kinase activation contributes to endothelin-1 overexpression in pulmonary fibrosis: evidence of an autocrine endothelin loop operating through the endothelin A and B receptors.64
163571762005Endothelin-1 promotes epithelial-to-mesenchymal transition in human ovarian cancer cells.59
208377762011Endothelin-1 gene regulation.58

Citation

Dessen P

EDN1 (endothelin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45765/edn1