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
logos LINCs Logo Mt Sinai Logo NIH Logo NCI 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, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 20q13.2-q13.3
Cellular Component: extracellular region; extracellular space; intracellular
Molecular Function: endothelin B receptor binding; hormone activity; receptor binding
Biological Process: artery smooth muscle contraction; blood circulation; cell surface receptor linked signal transduction; cell-cell signaling; cellular calcium ion homeostasis; inositol phosphate-mediated signaling; melanocyte differentiation; multicellular organismal development; neural crest cell migration; neuron differentiation; neutrophil chemotaxis; peptide hormone secretion; positive regulation of cell differentiation; positive regulation of cell proliferation; positive regulation of heart rate; positive regulation of hormone secretion; positive regulation of leukocyte chemotaxis; positive regulation of MAP kinase activity; positive regulation of mitosis; regulation of gene expression; regulation of pigmentation during development; regulation of systemic arterial blood pressure by endothelin; regulation of vasoconstriction; signal transduction; vasoconstriction; vein smooth muscle contraction
Disease: Central Hypoventilation Syndrome, Congenital; Hirschsprung Disease, Susceptibility To, 4; Waardenburg Syndrome, Type 4b
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  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  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


 LTP 

LTP: 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.


 HTP 

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


       human

 
0 1 S34‑p DAGRRGVsQAPTAAR
  mouse

 
S34 DSGRASVSQGPPEAG
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.