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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Candidate cardiovascular disease genes Disease related genes Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
p24.1
Chromosome location (bp)
12290361 - 12297194
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Endothelins are endothelium-derived vasoconstrictor peptides (By similarity). Probable ligand for G-protein coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells 1. Also binds the DEAR/FBXW7-AS1 receptor 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Vasoactive, Vasoconstrictor
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
P05305 [Direct mapping] Endothelin-1 Endothelin-1 Big endothelin-1
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Q6FH53 [Target identity:100%; Query identity:100%] EDN1 protein; Endothelin 1, isoform CRA_b; cDNA FLJ75736, highly similar to Homo sapiens endothelin 1 (EDN1), mRNA
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Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Candidate cardiovascular disease genes Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000165[MAPK cascade] GO:0001501[skeletal system development] GO:0001516[prostaglandin biosynthetic process] GO:0001569[branching involved in blood vessel morphogenesis] GO:0001666[response to hypoxia] GO:0001701[in utero embryonic development] GO:0001821[histamine secretion] GO:0001975[response to amphetamine] GO:0003100[regulation of systemic arterial blood pressure by endothelin] GO:0003253[cardiac neural crest cell migration involved in outflow tract morphogenesis] GO:0003357[noradrenergic neuron differentiation] GO:0005102[signaling receptor binding] GO:0005125[cytokine activity] GO:0005179[hormone activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0006366[transcription by RNA polymerase II] GO:0006468[protein phosphorylation] GO:0006874[cellular calcium ion homeostasis] GO:0006885[regulation of pH] GO:0006939[smooth muscle contraction] GO:0007005[mitochondrion organization] GO:0007166[cell surface receptor signaling pathway] GO:0007186[G protein-coupled receptor signaling pathway] GO:0007193[adenylate cyclase-inhibiting 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:0007249[I-kappaB kinase/NF-kappaB signaling] GO:0007267[cell-cell signaling] GO:0007507[heart development] GO:0007585[respiratory gaseous exchange by respiratory system] GO:0007589[body fluid secretion] GO:0008217[regulation of blood pressure] GO:0008284[positive regulation of cell population proliferation] GO:0009410[response to xenobiotic stimulus] GO:0009953[dorsal/ventral pattern formation] GO:0010193[response to ozone] GO:0010259[multicellular organism aging] GO:0010460[positive regulation of heart rate] GO:0010467[gene expression] GO:0010595[positive regulation of endothelial cell migration] GO:0010613[positive regulation of cardiac muscle hypertrophy] GO:0010629[negative regulation of gene expression] GO:0010737[protein kinase A signaling] GO:0010827[regulation of glucose transmembrane transport] GO:0014032[neural crest cell development] GO:0014033[neural crest cell differentiation] GO:0014034[neural crest cell fate commitment] GO:0014065[phosphatidylinositol 3-kinase signaling] GO:0014823[response to activity] GO:0014824[artery smooth muscle contraction] GO:0014826[vein smooth muscle contraction] GO:0019229[regulation of vasoconstriction] GO:0019233[sensory perception of pain] GO:0019722[calcium-mediated signaling] GO:0030072[peptide hormone secretion] GO:0030133[transport vesicle] GO:0030185[nitric oxide transport] GO:0030195[negative regulation of blood coagulation] GO:0030335[positive regulation of cell migration] GO:0030878[thyroid gland development] GO:0031175[neuron projection development] GO:0031583[phospholipase D-activating G protein-coupled receptor signaling pathway] GO:0031707[endothelin A receptor binding] GO:0031708[endothelin B receptor binding] GO:0032308[positive regulation of prostaglandin secretion] GO:0032496[response to lipopolysaccharide] GO:0033093[Weibel-Palade body] GO:0033574[response to testosterone] GO:0034392[negative regulation of smooth muscle cell apoptotic process] GO:0034696[response to prostaglandin F] GO:0035050[embryonic heart tube development] GO:0035094[response to nicotine] GO:0035556[intracellular signal transduction] 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: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:0044751[cellular response to human chorionic gonadotropin stimulus] GO:0045178[basal part of cell] 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 mitotic nuclear division] GO:0045944[positive regulation of transcription by RNA polymerase II] 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:0048237[rough endoplasmic reticulum lumen] GO:0048514[blood vessel morphogenesis] GO:0048661[positive regulation of smooth muscle cell proliferation] GO:0048675[axon extension] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051216[cartilage development] GO:0051248[negative regulation of protein metabolic process] 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:0060070[canonical Wnt signaling pathway] GO:0060137[maternal process involved in parturition] GO:0060298[positive regulation of sarcomere organization] GO:0060385[axonogenesis involved in innervation] GO:0060585[positive regulation of prostaglandin-endoperoxide synthase activity] GO:0061051[positive regulation of cell growth involved in cardiac muscle cell development] GO:0061626[pharyngeal arch artery morphogenesis] GO:0065008[regulation of biological quality] GO:0070101[positive regulation of chemokine-mediated signaling pathway] GO:0070294[renal sodium ion absorption] GO:0070301[cellular response to hydrogen peroxide] GO:0070371[ERK1 and ERK2 cascade] GO:0070588[calcium ion transmembrane transport] GO:0071277[cellular response to calcium ion] GO:0071310[cellular response to organic substance] GO:0071346[cellular response to interferon-gamma] GO:0071347[cellular response to interleukin-1] GO:0071356[cellular response to tumor necrosis factor] GO:0071372[cellular response to follicle-stimulating hormone stimulus] GO:0071373[cellular response to luteinizing hormone stimulus] 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:0071466[cellular response to xenobiotic stimulus] GO:0071548[response to dexamethasone] GO:0071559[response to transforming growth factor beta] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0086100[endothelin receptor signaling pathway] GO:0086101[endothelin receptor signaling pathway involved in heart process] GO:0090023[positive regulation of neutrophil chemotaxis] GO:0097492[sympathetic neuron axon guidance] GO:0097746[blood vessel diameter maintenance] GO:1901224[positive regulation of NIK/NF-kappaB signaling] GO:1902074[response to salt] GO:1902287[semaphorin-plexin signaling pathway involved in axon guidance] GO:1903537[meiotic cell cycle process involved in oocyte maturation] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:2000273[positive regulation of signaling receptor activity] GO:2001259[positive regulation of cation channel activity]