EDN1 endothelin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EDN1provided by HGNC
Official Full Name: endothelin 1provided by HGNC
Primary source: HGNC:HGNC:3176
See related: Ensembl:ENSG00000078401 MIM:131240
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ET1; QME; PPET1; ARCND3; HDLCQ7
Summary: 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]
Expression: Broad expression in lung (RPKM 13.6), fat (RPKM 10.9) and 23 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 6p24.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	6	NC_000006.12 (12256463..12297194)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (12290529..12297427)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Common endothelin SNPs were found to be associated with aneurysmal subarachnoid hemorrhage (aSAH) and its sequelae. The T allele of the END1 T/G SNP (rs1800541) was associated with aSAH. The G allele of the EDNRA G/C SNP (rs5335) was associated with clinical vasospasm.
Title: Associations between endothelin polymorphisms and aneurysmal subarachnoid hemorrhage, clinical vasospasm, delayed cerebral ischemia, and functional outcome.
The interaction between stages of essential hypertension and risk factors with polymorphism 138ex1 ins/del A of the endothelin-1 gene was analyzed. The 4A/4A carriers showed a lower frequency of cardiovascular, kidney and brain disease. The 4A/4A genotype may indicate worse outcome.
Title: [Single nucleotide polymorphisms in genes of endothelin-1 and receptor A associated to cardiovascular in essential hypertension].
Lys198Asn-polymorphism of the endothelin-1 gene is associated with the development of arterial hypertension in the Ukrainian population
Title: [The association of LYS198ASN -polymorphism of endothelin-1 gene (EDN1) with development of arterial hypertension in ukrainian population].
Dysregulated aldosterone secretion in persons of African descent with endothelin-1 gene variants.
Title: Dysregulated aldosterone secretion in persons of African descent with endothelin-1 gene variants.
Study explored the existence of an ET-1 production and induction system that is related to the immune system, and demonstrate a newly discovered T cell-mediated vascular endothelial cell-independent ET-1 production system by using human and murine immune cells. This study demonstrates the existence of an immune-mediated ET-1 production induced by T cells upon activation through IFN-gamma and TNF-alpha.
Title: T cells upon activation promote endothelin 1 production in monocytes via IFN-γ and TNF-α.
ET-1 expression in the endothelial cells of diabetic foot ulcers is an important determinant of insulin resistance at the onset of disease and induces macrophages to produce NF-kappaB, which regulates inflammation. It is thought that ADAM 15 contributes to angiogenic effects as a means of stimulating endothelial cells
Title: Endothelin 1, NF-κB, and ADAM-15 expression in diabetic foot wounds.
ET-1, NT-pro ANP, and TNF-a concentrations are increased in hypertension in children.
Title: Endothelin-1 (ET-1), N-terminal fragment of pro-atrial natriuretic peptide (NTpro-ANP), and tumour necrosis factor alpha (TNF-α) in children with primary hypertension and hypertension of renal origin.
The combined GT + TT genotype of EDN1 5665 SNP was related with late (age after 40 years) papillary thyroid cancer (PTC) onset (p = 0.04), and was more prominent among male patients with PTC according to females (p = 0.03). No significant associations between PTC and - 1370 SNP were found. The EDN1 5665 SNP was linked with increased risk for late PTC onset and was more prominent among male patients with PTC.
Title: The endothelin 1 and endothelin receptor A gene polymorphisms increase the risk of developing papillary thyroid cancer.
EDN1 single-nucleotide polymorphism rs6458155 and the haplotype rs6458155C-rs4145451C are associated with the risk of coronary artery disease in the Chinese Han population.
Title: Genetic susceptibility of five tagSNPs in the endothelin-1 (<i>EDN1</i>) gene to coronary artery disease in a Chinese Han population.
Letter: patients with asystolic vasovagal syncope are younger and have lower supine levels of adrenomedullin and endothelin-1.
Title: Low Adrenomedullin and Endothelin-1 Predict Cardioinhibitory Response During Vasovagal Reflex in Adults Over 40 Years of Age.

Submit: New GeneRIF Correction See all GeneRIFs (686)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Auriculocondylar syndrome 3 MedGen: C3810332 OMIM: 615706 GeneReviews: Not available	Compare labs
Question mark ears, isolated MedGen: C2748545 OMIM: 612798 GeneReviews: Not available	Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 stimulates the secretion of endothelin-1, as well as TNF-alpha, from human cells in a concentration-dependent manner	PubMed
Nef	nef	The activation of extracellular signal-regulated kinase (ERK) by endothelin-1 (ET-1) is inhibited by HIV-1 Nef in human astrocytes; a similar inhibitory action of Nef on ERK activation was observed after direct stimulation of G proteins	PubMed
Tat	tat	HIV-1 Tat-linked intracellular third loop of the endothelin-1 type B receptor markedly enhances the endothelin-1 activation of ERK in the bone morphogenetic protein-2 receptor human pulmonary artery smooth muscle cells	PubMed
	tat	In HIV-1 Tat-expressing and HIV-infected astrocytes, endothelin-1 (ET-1) is significantly elevated through NF-kappaB (NF-kappaB)-responsive sites in the ET-1 promoter	PubMed
matrix	gag	HIV-1 MA-induced capillary-like structure formation is partially mediated by the ET-1/ETB receptor axis in human primary lymph node-derived lymphatic endothelial cells	PubMed
	gag	Exposure of human primary lymph node-derived lymphatic endothelial cells with HIV-1 MA induces release of ET-1	PubMed
	gag	Treatment of human stellate cells with HIV-1 MA upregulates the expression of CXCR2, syndecan-2, collagen-I, alpha-SMA, vimentin, and endothelin-1	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
EGFR-dependent Endothelin signaling events, organism-specific biosystem (from Pathway Interaction Database)
EGFR-dependent Endothelin signaling events, organism-specific biosystem
EGFR-dependent Endothelin signaling events
Endothelin Pathways, organism-specific biosystem (from WikiPathways)
Endothelin Pathways, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
Endothelins, organism-specific biosystem (from Pathway Interaction Database)
Endothelins, organism-specific biosystem
Endothelins
Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
GPCR downstream signaling, organism-specific biosystem (from REACTOME)
GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
GPCR ligand binding, organism-specific biosystem (from REACTOME)
GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
HIF-1-alpha transcription factor network, organism-specific biosystem
HIF-1-alpha transcription factor network
Lung fibrosis, organism-specific biosystem (from WikiPathways)
Lung fibrosis, organism-specific biosystemLung fibrosis pathway linked to events (molecular initiating event, key events and associative events) in a putative Adverse Outcome Pathway for lung fibrosis.
Melanogenesis, organism-specific biosystem (from KEGG)
Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
Melanogenesis, conserved biosystem (from KEGG)
Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
Melatonin metabolism and effects, organism-specific biosystem (from WikiPathways)
Melatonin metabolism and effects, organism-specific biosystemMelatonin is an important regulator of circadian rythmus and influences also insulin secretion, immune function, retinal function and neuroprotection. The synthesis starts with the amino acid tryptop...
MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystemThis pathway shows the role of microRNAs in the process of cardiac hypertrophy. MicroRNA targets were predicted by the TargetScan algorithm, and the predicted interactions are shown in red dashed lin...
Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystem (from WikiPathways)
Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystemPhotodynamic therapy may induce a hypoxic survival response mediated by HIF-1.
Physiological and Pathological Hypertrophy of the Heart, organism-specific biosystem (from WikiPathways)
Physiological and Pathological Hypertrophy of the Heart, organism-specific biosystemPathways in physiological and pathological hypertrophy of the heart. Largely based on the article from Wang Y; ''Signal transduction in cardiac hypertrophy--dissecting compensatory versus pathologica...
Prostaglandin Synthesis and Regulation, organism-specific biosystem (from WikiPathways)
Prostaglandin Synthesis and Regulation, organism-specific biosystemA prostaglandin is any member of a group of lipid compounds that are derived enzymatically from fatty acids and have important functions in the animal body. Every prostaglandin contains 20 carbon ato...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by GPCR, organism-specific biosystem (from REACTOME)
Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
TNF signaling pathway, organism-specific biosystem (from KEGG)
TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
TNF signaling pathway, conserved biosystem (from KEGG)
TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A006R11 (e-PCR)
- UniSTS:39263

WI-7563 (e-PCR)
- UniSTS:73697

Homology

Homologs of the EDN1 gene: The EDN1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 254 organisms have orthologs with human gene EDN1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
cytokine activity	IDA Inferred from Direct Assay more info	PubMed
endothelin A receptor binding	IDA Inferred from Direct Assay more info	PubMed
endothelin B receptor binding	IDA Inferred from Direct Assay more info	PubMed
endothelin B receptor binding	IPI Inferred from Physical Interaction more info	PubMed
hormone activity	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
artery smooth muscle contraction	IDA Inferred from Direct Assay more info	PubMed
artery smooth muscle contraction	TAS Traceable Author Statement more info	PubMed
body fluid secretion	IEA Inferred from Electronic Annotation more info
branching involved in blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
calcium-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
cartilage development	IEA Inferred from Electronic Annotation more info
cell surface receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
cell-cell signaling	IDA Inferred from Direct Assay more info	PubMed
cellular response to calcium ion	IEA Inferred from Electronic Annotation more info
cellular response to drug	IEA Inferred from Electronic Annotation more info
cellular response to fatty acid	IEA Inferred from Electronic Annotation more info
cellular response to glucocorticoid stimulus	IEA Inferred from Electronic Annotation more info
cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
cellular response to interferon-gamma	IEA Inferred from Electronic Annotation more info
cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
cellular response to mineralocorticoid stimulus	IEA Inferred from Electronic Annotation more info
cellular response to peptide hormone stimulus	IEA Inferred from Electronic Annotation more info
cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
dorsal/ventral pattern formation	IEA Inferred from Electronic Annotation more info
epithelial fluid transport	IEA Inferred from Electronic Annotation more info
heart development	IEA Inferred from Electronic Annotation more info
histamine secretion	IEA Inferred from Electronic Annotation more info
in utero embryonic development	IEA Inferred from Electronic Annotation more info
inositol phosphate-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
leukocyte activation	TAS Traceable Author Statement more info	PubMed
maternal process involved in parturition	IEA Inferred from Electronic Annotation more info
membrane depolarization	IEA Inferred from Electronic Annotation more info
middle ear morphogenesis	IEA Inferred from Electronic Annotation more info
multicellular organism aging	IEA Inferred from Electronic Annotation more info
negative regulation of blood coagulation	TAS Traceable Author Statement more info	PubMed
negative regulation of cellular protein metabolic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of hormone secretion	IEA Inferred from Electronic Annotation more info
negative regulation of nitric-oxide synthase biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of smooth muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
neural crest cell development	IEA Inferred from Electronic Annotation more info
NOT neutrophil chemotaxis	IDA Inferred from Direct Assay more info	PubMed
nitric oxide transport	IDA Inferred from Direct Assay more info	PubMed
peptide hormone secretion	IDA Inferred from Direct Assay more info	PubMed
phosphatidylinositol 3-kinase signaling	IDA Inferred from Direct Assay more info	PubMed
phospholipase D-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of JUN kinase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of NIK/NF-kappaB signaling	IEA Inferred from Electronic Annotation more info
positive regulation of cardiac muscle hypertrophy	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell growth involved in cardiac muscle cell development	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell growth involved in cardiac muscle cell development	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell size	IDA Inferred from Direct Assay more info	PubMed
positive regulation of chemokine-mediated signaling pathway	IC Inferred by Curator more info	PubMed
positive regulation of cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of endothelial cell migration	TAS Traceable Author Statement more info	PubMed
positive regulation of heart rate	IDA Inferred from Direct Assay more info	PubMed
positive regulation of hormone secretion	IDA Inferred from Direct Assay more info	PubMed
positive regulation of mitotic nuclear division	IDA Inferred from Direct Assay more info	PubMed
positive regulation of neutrophil chemotaxis	IEA Inferred from Electronic Annotation more info
positive regulation of nitric oxide biosynthetic process	TAS Traceable Author Statement more info	PubMed
positive regulation of odontogenesis	IEA Inferred from Electronic Annotation more info
positive regulation of prostaglandin secretion	IEA Inferred from Electronic Annotation more info
positive regulation of prostaglandin-endoperoxide synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of receptor biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of renal sodium excretion	IEA Inferred from Electronic Annotation more info
positive regulation of sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of smooth muscle contraction	IEA Inferred from Electronic Annotation more info
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of urine volume	IEA Inferred from Electronic Annotation more info
positive regulation of vascular smooth muscle cell proliferation	IEA Inferred from Electronic Annotation more info
prostaglandin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
protein kinase C deactivation	IDA Inferred from Direct Assay more info	PubMed
protein kinase C-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
regulation of blood vessel diameter	IEA Inferred from Electronic Annotation more info
regulation of glucose transmembrane transport	IEA Inferred from Electronic Annotation more info
regulation of pH	IEA Inferred from Electronic Annotation more info
regulation of sensory perception of pain	IEA Inferred from Electronic Annotation more info
regulation of systemic arterial blood pressure by endothelin	IDA Inferred from Direct Assay more info	PubMed
regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
respiratory gaseous exchange	IEA Inferred from Electronic Annotation more info
response to activity	IEA Inferred from Electronic Annotation more info
response to amino acid	IEA Inferred from Electronic Annotation more info
response to dexamethasone	IEA Inferred from Electronic Annotation more info
response to leptin	IEA Inferred from Electronic Annotation more info
response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
response to muscle stretch	IEA Inferred from Electronic Annotation more info
response to nicotine	IEA Inferred from Electronic Annotation more info
response to ozone	IEA Inferred from Electronic Annotation more info
response to prostaglandin F	IEA Inferred from Electronic Annotation more info
response to salt	IEA Inferred from Electronic Annotation more info
response to testosterone	IEA Inferred from Electronic Annotation more info
rhythmic excitation	IEA Inferred from Electronic Annotation more info
sensory perception of pain	IEA Inferred from Electronic Annotation more info
superoxide anion generation	IEA Inferred from Electronic Annotation more info
vasoconstriction	IDA Inferred from Direct Assay more info	PubMed
vein smooth muscle contraction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
Weibel-Palade body	IEA Inferred from Electronic Annotation more info
basal part of cell	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
rough endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: endothelin-1

Names: preproendothelin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016196.1 RefSeqGene

Range

5066..11899

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001168319.2 → NP_001161791.1 endothelin-1 isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001161791.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AL548191, AW044634, BQ009676, BX439515, S56805, Z98050

UniProtKB/Swiss-Prot

P05305

Conserved Domains (3) summary

PHA02659
Location:4 → 72

PHA02659; endothelin precursor; Provisional

smart00272
Location:107 → 128

END; Endothelin

pfam00322
Location:48 → 76

Endothelin; Endothelin family
NM_001955.5 → NP_001946.3 endothelin-1 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001946.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL548191, AW044634, BQ009676, S56805, Z98050

Consensus CDS

CCDS4522.1

UniProtKB/Swiss-Prot

P05305

UniProtKB/TrEMBL

Q6FH53

Related

ENSP00000368683.5, ENST00000379375.6

Conserved Domains (2) summary

smart00272
Location:108 → 129

END; Endothelin

pfam00322
Location:49 → 77

Endothelin; Endothelin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p13 Primary Assembly

Range

12256463..12297194

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011514331.3 → XP_011512633.1 endothelin-1 isoform X1

See identical proteins and their annotated locations for XP_011512633.1

UniProtKB/Swiss-Prot

P05305

UniProtKB/TrEMBL

Q6FH53

Conserved Domains (2) summary

smart00272
Location:108 → 129

END; Endothelin

pfam00322
Location:49 → 77

Endothelin; Endothelin family
XM_011514332.2 → XP_011512634.1 endothelin-1 isoform X2

See identical proteins and their annotated locations for XP_011512634.1

Conserved Domains (3) summary

PHA02659
Location:4 → 72

PHA02659; endothelin precursor; Provisional

smart00272
Location:107 → 128

END; Endothelin

pfam00322
Location:48 → 76

Endothelin; Endothelin family
XM_011514330.2 → XP_011512632.1 endothelin-1 isoform X1

See identical proteins and their annotated locations for XP_011512632.1

UniProtKB/Swiss-Prot

P05305

UniProtKB/TrEMBL

Q6FH53

Conserved Domains (2) summary

smart00272
Location:108 → 129

END; Endothelin

pfam00322
Location:49 → 77

Endothelin; Endothelin family
XM_017010331.1 → XP_016865820.1 endothelin-1 isoform X1

UniProtKB/Swiss-Prot

P05305

UniProtKB/TrEMBL

Q6FH53

Conserved Domains (2) summary

smart00272
Location:108 → 129

END; Endothelin

pfam00322
Location:49 → 77

Endothelin; Endothelin family