catalog number :
MBS143843
products type :
Native Protein
products full name :
Human Endothelin-3
products short name :
Endothelin-3
products name syn :
EDN3 Human; Human Endothelin-3; EDN3; EDN-3; ET-3; ET3; WS4B; HSCR4; MGC15067; MGC61498; Endothelin-3; Preproendothelin-3; PPET3
other names :
endothelin-3 isoform 4 preproprotein; Endothelin-3; endothelin-3; preproendothelin-3; endothelin 3; Preproendothelin-3; PPET3
products gene name :
EDN3
other gene names :
EDN3; EDN3; ET3; ET-3; WS4B; HSCR4; PPET3; ET-3; PPET3
uniprot entry name :
EDN3_HUMAN
sequence :
Cys-Thr-Cys-Phe-Thr-Tyr-Lys-Asp-Lys-Glu-Cys-Val-Tyr-Tyr-Cys-His-Leu-Asp-Ile-Ile-Trp.
purity :
Greater than 95.0% as determined by RP-HPLC.
form :
The protein (1mg/ml) was lyophilized with no additives. Sterile Filtered White lyophilized (freeze-dried) powder.
storage stability :
Lyophilized EDN3 although stable at room temperature for 3 weeks, should be stored desiccated below -18 degree C. Upon reconstitution EDN3 should be stored at 4 degree C between 2-7 days and for future use below -18 degree C.For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Please prevent freeze-thaw cycles.
other info2 :
Solubility: It is recommended to reconstitute the lyophilized EDN3 in sterile 18M Omega -cm H2O not less than 100 ug/ml, which can then be further diluted to other aqueous solutions.
products categories :
HORMONES; Hormones; Endothelin
products description :
Description: EDN3 contains 21 amino acids having a molecular mass of 2634.1 Dalton. Introduction: EDN3 interacts with endothelin receptor B, on the surface of cells. Throughout embryonic development, EDN3 takes part in neural crest cells that migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. EDN3 and EDN3R are necessary for the formation of nerves in the large intestine (enteric nerves) and melanocytes (produce melanin). Mutations in the EDN3 gene is linked with Waardenburg syndrome, type IV that is characterized by changes in skin, hair, and eye coloring. Mutations in the EDN3 gene is linked with Hirschsprung disease that causes severe constipation or intestinal blockage.
ncbi acc num :
NP_001289384.1
ncbi gb acc num :
NM_001302455.1
ncbi mol weight :
23,596 Da
ncbi pathways :
Class A/1 (Rhodopsin-like Receptors) Pathway (106357); Defective ACTH Causes Obesity And Pro-opiomelanocortinin Deficiency (POMCD) Pathway (1127664); Disease Pathway (530764); Endothelins Pathway (137958); G Alpha (q) Signalling Events Pathway (106043); GPCR Downstream Signaling Pathway (119548); GPCR Ligand Binding Pathway (161020); Gastrin-CREB Signalling Pathway Via PKC And MAPK (645295); Metabolic Disorders Of Biological Oxidation Enzymes Pathway (1127637); Peptide Ligand-binding Receptors Pathway (106358)
ncbi summary :
The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
uniprot summary :
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. Protein type: Secreted, signal peptide; Secreted. Chromosomal Location of Human Ortholog: 20q13.2-q13.3. Cellular Component: extracellular space; extracellular region. Molecular Function: hormone activity; receptor binding. Biological Process: regulation of systemic arterial blood pressure by endothelin; blood circulation; multicellular organismal development; positive regulation of leukocyte chemotaxis; vein smooth muscle contraction; signal transduction; neuron differentiation; positive regulation of MAP kinase activity; cell surface receptor linked signal transduction; cell-cell signaling; melanocyte differentiation; positive regulation of cell proliferation; neural crest cell migration; artery smooth muscle contraction; vasoconstriction; neutrophil chemotaxis; inositol phosphate-mediated signaling; positive regulation of mitosis; positive regulation of hormone secretion; positive regulation of heart rate; peptide hormone secretion; cellular calcium ion homeostasis; regulation of gene expression; regulation of vasoconstriction; regulation of pigmentation during development; positive regulation of cell differentiation. Disease: Hirschsprung Disease, Susceptibility To, 4; Waardenburg Syndrome, Type 4b; Central Hypoventilation Syndrome, Congenital