Hormones Recombinant Proteins

Human EDN3 Recombinant Protein (RPPB1272)

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SKU:
RPPB1272
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
P14138
Research Area:
Hormones

Description

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Product Name:Human EDN3 Recombinant Protein
Product Code:RPPB1272
Size:5µg
Species:Human
Target:EDN3
Synonyms:EDN3, EDN-3, ET-3, ET3, WS4B, HSCR4, MGC15067, MGC61498, Endothelin-3, Preproendothelin-3, PPET3.
Source:Escherichia Coli
Physical Appearance:Sterile filtered colorless solution.
Formulation:EDN3 protein solution (0.25mg/ml) in Phosphate bufferedsaline (pH7.4) and 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks.Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 85.0% as determined by RP-HPLC.
Amino Acid Sequence:MGSSHHHHHH SSGLVPRGSH MGSGDAGRRG VSQAPTAARS EGDCEETVAG PGEETVAGPG EGTVAPTALQGPSPGSPGQE QAAEGAPEHH RSRRCTCFTY KDKECVYYCH LDIIWINTPE QTVPYGLSNY RGSFRGKRSAGPLPGNLQLS HRPHLRCACV GRYDKACLHF CTQTLDVSSN SRTAEKTDKE EEGKVEVKDQ QSKQALDLHHPKLMPGSGLA LAPSTCPRCL FQEGAP

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

EDN3 Human Recombinant produced in E.Coli is a single, non-glycosylated polypeptide chain containing 236 amino acids (26-238 a.a) and having a molecular mass of 25.2kDa.EDN3 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

UniProt Protein Function: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.
UniProt Protein Details:

Protein type:Secreted; Secreted, signal peptide

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; signal transduction; vein smooth muscle contraction; 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

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 Code:P14138
NCBI GenInfo Identifier:119618
NCBI Gene ID:1908
NCBI Accession:P14138.1
UniProt Secondary Accession:P14138,Q03229, Q7Z6D2, Q9UGT7, E1P5I5,
UniProt Related Accession:P14138
Molecular Weight:23,596 Da
NCBI Full Name:Endothelin-3
NCBI Synonym Full Names:endothelin 3
NCBI Official Symbol:EDN3��
NCBI Official Synonym Symbols:ET3; ET-3; WS4B; HSCR4; PPET3��
NCBI Protein Information:endothelin-3; preproendothelin-3
UniProt Protein Name:Endothelin-3
UniProt Synonym Protein Names:Preproendothelin-3; PPET3
Protein Family:Endothelin
UniProt Gene Name:EDN3��
UniProt Entry Name:EDN3_HUMAN
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