Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
PhosphoSitePlus
HomeAbout PhosphoSiteUsing PhosphoSiteCuration ProcessContact
NIH-logos NIGMS Logo NIAAA Logo NCI Logo NIH Logo
Protein Page:
EDN3 (human)

Overview
EDN3 Endothelins are endothelium-derived vasoconstrictor peptides. Defects in EDN3 are the cause of Hirschsprung disease type 4 (HSCR4); also known as aganglionic megacolon (MGC). A genetic disorder of neural crest development characterized by the absence of intramural ganglion cells in the hindgut; often resulting in intestinal obstruction. Defects in EDN3 are a cause of congenital central hypoventilation syndrome (CCHS); also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Defects in EDN3 are a cause of Waardenburg syndrome type 4 (WS4B); also known as Waardenburg-Shah syndrome. WS4B is characterized by the association of Waardenburg features (depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Belongs to the endothelin/sarafotoxin family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Cellular Component: extracellular space; extracellular region
Molecular Function: hormone activity; receptor binding
Biological Process: vasoconstriction; neutrophil chemotaxis; inositol phosphate-mediated signaling; regulation of systemic arterial blood pressure by endothelin; positive regulation of mitosis; blood circulation; multicellular organismal development; positive regulation of hormone secretion; positive regulation of leukocyte chemotaxis; positive regulation of heart rate; signal transduction; peptide hormone secretion; vein smooth muscle contraction; neuron differentiation; positive regulation of MAP kinase activity; cell surface receptor linked signal transduction; cell-cell signaling; regulation of vasoconstriction; melanocyte differentiation; positive regulation of cell proliferation; regulation of pigmentation during development; neural crest cell migration; artery smooth muscle contraction
Reference #:  P14138 (UniProtKB)
Alt. Names/Synonyms: EDN3; endothelin 3; Endothelin-3; ET-3; ET3; HSCR4; MGC15067; MGC61498; PPET3; Preproendothelin-3; truncated endothelin 3; WS4B
Gene Symbols: EDN3
Molecular weight: 25,454 Da
Basal Isoelectric point: 6.24  Predict pI for various phosphorylation states
Select Structure to View Below

EDN3

Protein Structure Not Found.


STRING  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  DISEASE  |  Scansite  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene


Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 S15 LFGLTVTSAAGFVPC
  mouse

 
S15-p LLGLTVTsAAGLVPC
Home  |  Curator Login With enhanced literature mining using Linguamatics I2E I2E Logo Produced by 3rd Millennium  |  Design by Digizyme
©2003-2013 Cell Signaling Technology, Inc.