AlphaFold predicted structure
EDN1 · P05305
Mean pLDDT
65.2/ 100
Low
212 residues
Confidence breakdown
- Very high(≥ 90)1%
- Confident(70–90)38%
- Low(50–70)44%
- Very low(< 50)17%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
EDN1
Chr 6p24.1endothelin 1
- Aliases:
- ET1
- MANE:
- ENST00000379375.6
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalClefting
Disease associations (Open Targets)
auriculocondylar syndrome
0.73question mark ears, isolated
0.54colorectal cancer
0.37alcohol drinking
0.29urinary tract obstruction
0.25Varicose veins
0.19hereditary disease
0.19dementia
0.18aortic valve stenosis
0.17lymphatic system disorder
0.15
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Endothelin-1
Endothelins are endothelium-derived vasoconstrictor peptides (By similarity). Probable ligand for G protein-coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells (PubMed:19086031). Also binds the DEAR/FBXW7-AS1 receptor (PubMed:17446437). Promotes mesenteric arterial wall remodeling via activation of ROCK signaling and subsequent colocalization of NFATC3 with F-actin filaments (By similarity). NFATC3 then translocates to the nucleus where it subsequently promotes the transcription of the smooth muscle hypertrophy and differentiation marker ACTA2 (By similarity)