EDN1 Gene Summary [Human]
This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Details
| Type | Protein Coding |
| Official Symbol | EDN1 |
| Official Name | endothelin 1 [Source:HGNC Symbol;Acc:HGNC:3176] |
| Ensembl ID | ENSG00000078401 |
| Bio databases IDs | |
| Aliases | endothelin 1 |
| Synonyms | ARCND3, endothelin 1, ET-1, Eth-1, HDLCQ7, PPET, PPET1, preproET, QME |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EDN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Endothelin family
- G-protein-coupled receptor binding
- hormone
- receptor agonist activity
- protein binding
- receptor binding
- cytokine
Pathways
Biological processes and signaling networks where the EDN1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- motor dysfunction
- cancer
- edema
- hypotension
- proliferative vitreoretinopathy
- double outlet right ventricle
- dilated cardiomyopathy
- hypertension
- ulcerative colitis
- lymph node-positive breast cancer
role in cell
- expression in
- cellular infiltration by
- organization
- deposition by
- proliferation
- production in
- invasion by
- formation
- formation in
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- membrane fraction
- Cytoplasm
- cell surface
- basal compartment
- cellular membrane
- vesicles
- granules
- vitreal membranes
- transport vesicles
- secretory vesicles
- rough endoplasmatic reticulum
- secretory granules
- brush border
- cellular protrusions
- motor endplates
- exosomes
- clathrin-coated vesicles
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EDN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of JUN kinase activity
- positive regulation of sequence-specific DNA binding transcription factor activity
- dorsal/ventral pattern formation
- cellular response to follicle-stimulating hormone stimulus
- cellular response to luteinizing hormone stimulus
- histamine secretion
- in utero embryonic development
- negative regulation of protein metabolic process
- cell-cell signaling
- response to leptin stimulus
- regulation of systemic arterial blood pressure by endothelin
- regulation of glucose transport
- negative regulation of nitric-oxide synthase biosynthetic process
- phospholipase D-activating G-protein coupled receptor signaling pathway
- positive regulation of cell growth involved in cardiac muscle cell development
- response to prostaglandin F stimulus
- membrane depolarization
- adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
- axonogenesis involved in innervation
- positive regulation of MAP kinase activity
- positive regulation of nitric oxide biosynthetic process
- positive regulation of cell proliferation
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- vasoconstriction
- superoxide anion generation
- positive regulation of transcription from RNA polymerase II promoter
- protein kinase C deactivation
- positive regulation of smooth muscle cell proliferation
- positive regulation of prostaglandin secretion
- positive regulation of calcium-mediated signaling
- protein kinase B signaling cascade
- cellular response to fatty acid
- cellular response to calcium ion
- positive regulation of renal sodium excretion
- positive regulation of cell size
- positive regulation of chemokine-mediated signaling pathway
- calcium ion transmembrane transport
- positive regulation of endothelial cell migration
- regulation of vasoconstriction
- positive regulation of urine volume
- positive regulation of receptor activity
- positive regulation of hormone secretion
- epithelial fluid transport
- response to nicotine
- maternal process involved in parturition
- negative regulation of hormone secretion
- mitochondrion organization
- renal sodium ion absorption
- thyroid gland development
- axon extension
- leukocyte activation
- glomerular visceral epithelial cell differentiation
- cellular response to glucocorticoid stimulus
- neutrophil chemotaxis
- cellular response to mineralocorticoid stimulus
- response to lipopolysaccharide
- response to dexamethasone stimulus
- positive regulation of heart rate
- negative regulation of smooth muscle cell apoptotic process
- peptide hormone secretion
- glomerular filtration
- negative regulation of blood coagulation
- transcription from RNA polymerase II promoter
- cardiac neural crest cell migration involved in outflow tract morphogenesis
- positive regulation of mitosis
- regulation of pH
- protein kinase A signaling cascade
- positive regulation of cardiac muscle hypertrophy
- cellular response to hypoxia
- response to testosterone stimulus
- response to muscle stretch
- calcium-mediated signaling
- positive regulation of protein localization to nucleus
- neural crest cell fate commitment
- G-protein coupled receptor signaling pathway
- positive regulation of neutrophil chemotaxis
- nitric oxide transport
- response to ozone
- respiratory gaseous exchange
- body fluid secretion
- glomerular endothelium development
- cellular response to transforming growth factor beta stimulus
- negative regulation of gene expression
- prostaglandin biosynthetic process
- vein smooth muscle contraction
- positive regulation of cation channel activity
- artery smooth muscle contraction
- response to activity
- positive regulation of cell migration
- cartilage development
- positive regulation of prostaglandin-endoperoxide synthase activity
- response to amino acid stimulus
- middle ear morphogenesis
- positive regulation of smooth muscle contraction
- negative regulation of transcription from RNA polymerase II promoter
- patterning of blood vessels
- positive regulation of odontogenesis
- canonical Wnt receptor signaling pathway
- cellular response to tumor necrosis factor
- cellular response to hydrogen peroxide
- positive regulation of sarcomere organization
- cell surface receptor signaling pathway
- rhythmic excitation
- embryonic heart tube development
- phospholipase C-activating G-protein coupled receptor signaling pathway
- protein kinase C-activating G-protein coupled receptor signaling pathway
- elevation of cytosolic calcium ion concentration
- cellular calcium ion homeostasis
- ERK1 and ERK2 cascade
- noradrenergic neuron differentiation
- response to amphetamine
- cellular response to interleukin-1
- cellular response to xenobiotic stimulus
- cellular response to interferon-gamma
Cellular Component
Where in the cell the gene product is active
- extracellular space
- Weibel-Palade body
- basal part of cell
- cytoplasm
- rough endoplasmic reticulum lumen
- transport vesicle
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- endothelin A receptor binding
- endothelin B receptor binding
- cytokine activity
- hormone activity