EDN1

GeneName

EDN1

Summary

EDN1, also known as ET-1 or Endothelin-1, is a 24 kDa peptide that is secreted and predominantly expressed in vascular endothelial cells. This potent vasoconstrictor plays a critical role in regulating blood pressure and vascular tone. EDN1 functions by binding to endothelin A and B receptors, initiating various signalling pathways that influence smooth muscle contraction, cell proliferation, and fluid secretion. It is involved in multiple biological processes including blood vessel morphogenesis, cardiac development, and cellular responses to various stimuli such as hypoxia and interleukin-1.

Importance

EDN1 is relevant to: - Cardiovascular research due to its role in regulating vascular tone and blood pressure, which is critical in conditions like hypertension and heart failure. - Cancer biology as it influences tumour growth and metastasis through its effects on angiogenesis and cell migration. - Developmental biology, particularly in heart development and neural crest cell migration, which are essential for proper embryonic development. - Pathophysiology of diseases such as pulmonary hypertension and renal disorders, where endothelin signalling is often dysregulated.

Top Products

For researchers investigating EDN1, we highly recommend the well-cited Anti-Endothelin 1 antibody [TR.ET.48.5] (ab2786). This monoclonal antibody is particularly noted for its effectiveness in Western blotting (WB), immunohistochemistry (IHC), immunocytochemistry (ICC), and flow cytometry (FC). With 82 citations, it has garnered significant trust within the research community, making it a reliable choice for your studies on EDN1. The Anti-Endothelin 1 antibody ELISA Kit (ab117757), supported by 34 citations, is an excellent option for researchers looking to accurately measure EDN1 levels in their samples.

Abcam Product Citation Summary

The data indicates that the EDN1 target is being studied in various contexts, including ischemia-reperfusion injury, chronic intermittent hypoxia, and hyperinsulinemia. The use of Abcam antibody ab2786 in different species such as rats and humans highlights its versatility in research applications, particularly in Western blotting and immunofluorescence techniques.

Abcam Product Citation Table

Function

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).

Involvement in disease

Question mark ears, isolated

QME

An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus.

None

The disease is caused by variants affecting the gene represented in this entry.

Auriculocondylar syndrome 3

ARCND3

An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the endothelin/sarafotoxin family.

Tissue Specificity

Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells.

Cellular localization

• Secreted

Alternative names

Endothelin-1, Preproendothelin-1, PPET1, EDN1

Database links

swissprot:P05305 entrezGene:1907 omim:131240 omim:131241 omim:131242 swissprot:P20800 swissprot:P14138 entrezGene:1906 entrezGene:1908