Candidate Genes Diabetic Retinopathy

Endothelin 1

Official Symbol
EDN1
Alternative Names
ET1;
PPET1;
HDLCQ7;
OTTHUMP00000016038;
preproendothelin-1
Description
A family of structurally and pharmacologically distinct peptides, the endothelins, has been identified and sequenced in humans . Three isoforms of human endothelin have been identified: endothelin-1, -2, and -3. Endothelin-1 is a potent, 21-amino acid vasoconstrictor peptide produced by vascular endothelial cells. The human preproendothelin-1 mRNA consists of 2,026 nucleotides, excluding the poly(A) tail. The endothelin family consists of highly potent vasoconstrictive peptides. They also have co-mitogenic activity, potentiating the effects of other growth factors such as PDGF.
Location
6p24.1
Map
Chr 17
Start: 12,290,529 bp from pter
End: 12,297,427 bp from pter
Size: 6,899 bases
Orientation: plus strand
Exons and Introns
5 exons and 6 distinct gt-ag introns.
Nucleotide Sequence
Aminoacid Sequence
Variation
rs5369 G/A
Motif
Pfam: Endothelin BpuJI_N PROSITE: ENDOTHELIN PROKAR_LIPOPROTEIN NLS_BP
Pathway
Melanogenesis
Interactors
Protein interactorsAdrenomedullin
Ataxin 1 ubiquitin like interacting protein
COP9 constitutive photomorphogenic homolog subunit 6
Endothelin receptor, type A
Chymase 1
Enkephalinase
Post Translational Modification
Cleavage on pair of basic residues
Disulfide bond
Proteolytic Cleavage
Phosphorylation
Molecular Weight
24425 da
Molecular Class
Peptide hormone
Molecular Function
Hormone activity Endothelins are endothelium-derived vasoconstrictor peptides Vasoconstrictor
3D Structure