InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EDN1

Summary

InnateDB Protein

IDBP-61849.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EDN1

Protein Name

endothelin 1

Synonyms

ARCND3; ET1; HDLCQ7; PPET1; QME;

Species

Homo sapiens

Ensembl Protein

ENSP00000368683

InnateDB Gene

IDBG-61847 (EDN1)

Protein Structure

UniProt Annotation

Function

Endothelins are endothelium-derived vasoconstrictor peptides.

Subcellular Localization

Secreted.

Disease Associations

Question mark ears, isolated (QME) [MIM:612798]: An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. {ECO:0000269PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.Auriculocondylar syndrome 3 (ARCND3) [MIM:615706]: A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. {ECO:0000269PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. {ECO:0000269PubMed:9284755}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005102	receptor binding
GO:0005125	cytokine activity
GO:0005179	hormone activity
GO:0005515	protein binding
GO:0031707	endothelin A receptor binding
GO:0031708	endothelin B receptor binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001501	skeletal system development
GO:0001516	prostaglandin biosynthetic process
GO:0001569	patterning of blood vessels
GO:0001666	response to hypoxia
GO:0001701	in utero embryonic development
GO:0001821	histamine secretion
GO:0003100	regulation of systemic arterial blood pressure by endothelin
GO:0006885	regulation of pH
GO:0007166	cell surface receptor signaling pathway
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0007205	protein kinase C-activating G-protein coupled receptor signaling pathway
GO:0007267	cell-cell signaling
GO:0007507	heart development
GO:0007585	respiratory gaseous exchange
GO:0007589	body fluid secretion
GO:0008217	regulation of blood pressure
GO:0008284	positive regulation of cell proliferation
GO:0009953	dorsal/ventral pattern formation
GO:0010193	response to ozone
GO:0010259	multicellular organismal aging
GO:0010460	positive regulation of heart rate
GO:0010595	positive regulation of endothelial cell migration
GO:0010613	positive regulation of cardiac muscle hypertrophy
GO:0010870	positive regulation of receptor biosynthetic process
GO:0014032	neural crest cell development
GO:0014065	phosphatidylinositol 3-kinase signaling
GO:0014823	response to activity
GO:0014824	artery smooth muscle contraction
GO:0014826	vein smooth muscle contraction
GO:0015758	glucose transport
GO:0016049	cell growth
GO:0019229	regulation of vasoconstriction
GO:0019233	sensory perception of pain
GO:0019722	calcium-mediated signaling
GO:0030072	peptide hormone secretion
GO:0030185	nitric oxide transport
GO:0030195	negative regulation of blood coagulation
GO:0030335	positive regulation of cell migration
GO:0030818	negative regulation of cAMP biosynthetic process
GO:0031583	phospholipase D-activating G-protein coupled receptor signaling pathway
GO:0032269	negative regulation of cellular protein metabolic process
GO:0032308	positive regulation of prostaglandin secretion
GO:0032496	response to lipopolysaccharide
GO:0033574	response to testosterone
GO:0034392	negative regulation of smooth muscle cell apoptotic process
GO:0034696	response to prostaglandin F
GO:0035094	response to nicotine
GO:0035556	intracellular signal transduction
GO:0035690	cellular response to drug
GO:0035810	positive regulation of urine volume
GO:0035815	positive regulation of renal sodium excretion
GO:0035994	response to muscle stretch
GO:0042045	epithelial fluid transport
GO:0042310	vasoconstriction
GO:0042313	protein kinase C deactivation
GO:0042474	middle ear morphogenesis
GO:0042482	positive regulation of odontogenesis
GO:0042493	response to drug
GO:0042554	superoxide anion generation
GO:0043179	rhythmic excitation
GO:0043200	response to amino acid
GO:0043406	positive regulation of MAP kinase activity
GO:0043507	positive regulation of JUN kinase activity
GO:0044321	response to leptin
GO:0045087	innate immune response (InnateDB)
GO:0045321	leukocyte activation
GO:0045429	positive regulation of nitric oxide biosynthetic process
GO:0045793	positive regulation of cell size
GO:0045840	positive regulation of mitosis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0045987	positive regulation of smooth muscle contraction
GO:0046887	positive regulation of hormone secretion
GO:0046888	negative regulation of hormone secretion
GO:0048016	inositol phosphate-mediated signaling
GO:0048514	blood vessel morphogenesis
GO:0048661	positive regulation of smooth muscle cell proliferation
GO:0051216	cartilage development
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway
GO:0051771	negative regulation of nitric-oxide synthase biosynthetic process
GO:0051899	membrane depolarization
GO:0051930	regulation of sensory perception of pain
GO:0060137	maternal process involved in parturition
GO:0060298	positive regulation of sarcomere organization
GO:0060585	positive regulation of prostaglandin-endoperoxide synthase activity
GO:0070101	positive regulation of chemokine-mediated signaling pathway
GO:0071277	cellular response to calcium ion
GO:0071346	cellular response to interferon-gamma
GO:0071347	cellular response to interleukin-1
GO:0071356	cellular response to tumor necrosis factor
GO:0071375	cellular response to peptide hormone stimulus
GO:0071385	cellular response to glucocorticoid stimulus
GO:0071389	cellular response to mineralocorticoid stimulus
GO:0071398	cellular response to fatty acid
GO:0071456	cellular response to hypoxia
GO:0071548	response to dexamethasone
GO:0071559	response to transforming growth factor beta
GO:0071560	cellular response to transforming growth factor beta stimulus
GO:0090023	positive regulation of neutrophil chemotaxis
GO:1902074	response to salt

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0033093	Weibel-Palade body
GO:0045178	basal part of cell
GO:0048237	rough endoplasmic reticulum lumen