Gene: EDN1

Basic information

Tag Content
Uniprot ID P05305; Q96DA1;
Entrez ID 1906
Genbank protein ID AAA52407.1; AAB25760.1; AAA52338.1; AAA52339.1; CAA68718.1; AAQ96600.1; AAH09720.1;
Genbank nucleotide ID NM_001955.4; XM_011514330.2; XM_017010331.1; XM_011514331.2; NM_001168319.1;
Ensembl protein ID ENSP00000368683
Ensembl nucleotide ID ENSG00000078401
Gene name Endothelin-1
Gene symbol EDN1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description 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 (PubMed:19086031).
Sequence
MDYLLMIFSL LFVACQGAPE TAVLGAELSA VGENGGEKPT PSPPWRLRRS KRCSCSSLMD 60
KECVYFCHLD IIWVNTPEHV VPYGLGSPRS KRALENLLPT KATDRENRCQ CASQKDKKCW 120
NFCQAGKELR AEDIMEKDWN NHKKGKDCSK LGKKCIYQQL VRGRKIRRSS EEHLRQTRSE 180
TMRNSVKSSF HDPKLKGKPS RERYVTHNRA HW 212

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologEDN1281137P17322Bos taurusPredictionMore>>
1:1 orthologEDN1403424P13206Canis lupus familiarisPredictionMore>>
1:1 orthologEDN1102175912A0A452E9X3Capra hircusPredictionMore>>
1:1 orthologEDN1100034060F7APB1Equus caballusPredictionMore>>
1:1 orthologEDN11906P05305Homo sapiensPredictionMore>>
1:1 orthologEdn113614P22387CPOMus musculusPublicationMore>>
1:1 orthologEDN1462437H2QSB1Pan troglodytesPredictionMore>>
1:1 orthologEDN1A0A287AHA8Sus scrofaPredictionMore>>
1:1 orthologEDN1100009270P29560Oryctolagus cuniculusPredictionMore>>
1:1 orthologEdn124323P22388Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005125 cytokine activityIDA
GO:0005179 hormone activityIDA
GO:0005515 protein bindingIPI
GO:0031707 endothelin A receptor bindingIDA
GO:0031708 endothelin B receptor bindingIDA
GO:0031708 endothelin B receptor bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIIDA
GO:0001516 prostaglandin biosynthetic processIDA
GO:0001569 branching involved in blood vessel morphogenesisIEA
GO:0001701 in utero embryonic developmentIEA
GO:0001821 histamine secretionIEA
GO:0003100 regulation of systemic arterial blood pressure by endothelinIDA
GO:0006885 regulation of pHIEA
GO:0007166 cell surface receptor signaling pathwayIDA
GO:0007186 G protein-coupled receptor signaling pathwayIDA
GO:0007186 G protein-coupled receptor signaling pathwayTAS
GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathwayIEA
GO:0007204 positive regulation of cytosolic calcium ion concentrationIDA
GO:0007205 protein kinase C-activating G protein-coupled receptor signaling pathwayIEA
GO:0007267 cell-cell signalingIDA
GO:0007507 heart developmentIEA
GO:0007585 respiratory gaseous exchange by respiratory systemIEA
GO:0007589 body fluid secretionIEA
GO:0008284 positive regulation of cell population proliferationIDA
GO:0009953 dorsal/ventral pattern formationIEA
GO:0010193 response to ozoneIEA
GO:0010259 multicellular organism agingIEA
GO:0010460 positive regulation of heart rateIDA
GO:0010595 positive regulation of endothelial cell migrationTAS
GO:0010613 positive regulation of cardiac muscle hypertrophyIDA
GO:0010827 regulation of glucose transmembrane transportIEA
GO:0010870 positive regulation of receptor biosynthetic processIDA
GO:0014032 neural crest cell developmentIEA
GO:0014065 phosphatidylinositol 3-kinase signalingIDA
GO:0014823 response to activityIEA
GO:0014824 artery smooth muscle contractionTAS
GO:0014824 artery smooth muscle contractionIDA
GO:0014826 vein smooth muscle contractionIDA
GO:0019229 regulation of vasoconstrictionIEA
GO:0019233 sensory perception of painIEA
GO:0019722 calcium-mediated signalingIDA
GO:0030072 peptide hormone secretionIDA
GO:0030185 nitric oxide transportIDA
GO:0030195 negative regulation of blood coagulationTAS
GO:0030335 positive regulation of cell migrationIDA
GO:0031583 phospholipase D-activating G protein-coupled receptor signaling pathwayIEA
GO:0032269 negative regulation of cellular protein metabolic processIDA
GO:0032308 positive regulation of prostaglandin secretionIEA
GO:0032496 response to lipopolysaccharideIEA
GO:0033574 response to testosteroneIEA
GO:0034392 negative regulation of smooth muscle cell apoptotic processIEA
GO:0034696 response to prostaglandin FIEA
GO:0035094 response to nicotineIEA
GO:0035690 cellular response to drugIEA
GO:0035810 positive regulation of urine volumeIEA
GO:0035815 positive regulation of renal sodium excretionIEA
GO:0035994 response to muscle stretchIEA
GO:0042045 epithelial fluid transportIEA
GO:0042310 vasoconstrictionIDA
GO:0042313 protein kinase C deactivationIDA
GO:0042474 middle ear morphogenesisIEA
GO:0042482 positive regulation of odontogenesisIEA
GO:0042554 superoxide anion generationIEA
GO:0043179 rhythmic excitationIEA
GO:0043200 response to amino acidIEA
GO:0043406 positive regulation of MAP kinase activityIDA
GO:0043507 positive regulation of JUN kinase activityIDA
GO:0044321 response to leptinIEA
GO:0045321 leukocyte activationTAS
GO:0045429 positive regulation of nitric oxide biosynthetic processTAS
GO:0045793 positive regulation of cell sizeIDA
GO:0045840 positive regulation of mitotic nuclear divisionIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0045987 positive regulation of smooth muscle contractionIEA
GO:0046887 positive regulation of hormone secretionIDA
GO:0046888 negative regulation of hormone secretionIEA
GO:0048016 inositol phosphate-mediated signalingIDA
GO:0048661 positive regulation of smooth muscle cell proliferationIDA
GO:0051091 positive regulation of DNA-binding transcription factor activityIDA
GO:0051216 cartilage developmentIEA
GO:0051482 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathwayIEA
GO:0051771 negative regulation of nitric-oxide synthase biosynthetic processIDA
GO:0051899 membrane depolarizationIEA
GO:0051930 regulation of sensory perception of painIEA
GO:0060137 maternal process involved in parturitionIEA
GO:0060298 positive regulation of sarcomere organizationIMP
GO:0060585 positive regulation of prostaglandin-endoperoxide synthase activityIMP
GO:0061051 positive regulation of cell growth involved in cardiac muscle cell developmentIDA
GO:0061051 positive regulation of cell growth involved in cardiac muscle cell developmentIGI
GO:0070101 positive regulation of chemokine-mediated signaling pathwayIC
GO:0071277 cellular response to calcium ionIEA
GO:0071346 cellular response to interferon-gammaIEA
GO:0071347 cellular response to interleukin-1IEA
GO:0071356 cellular response to tumor necrosis factorIEA
GO:0071375 cellular response to peptide hormone stimulusIEA
GO:0071385 cellular response to glucocorticoid stimulusIEA
GO:0071389 cellular response to mineralocorticoid stimulusIEA
GO:0071398 cellular response to fatty acidIEA
GO:0071456 cellular response to hypoxiaIEA
GO:0071548 response to dexamethasoneIEA
GO:0071560 cellular response to transforming growth factor beta stimulusIEA
GO:0086100 endothelin receptor signaling pathwayIMP
GO:0090023 positive regulation of neutrophil chemotaxisIEA
GO:1901224 positive regulation of NIK/NF-kappaB signalingIEA
GO:1902074 response to saltIEA
GO:1904707 positive regulation of vascular smooth muscle cell proliferationIEA
GO:0030593 neutrophil chemotaxisIDA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIDA
GO:0005623 cellIEA
GO:0005737 cytoplasmIDA
GO:0030133 transport vesicleTAS
GO:0033093 Weibel-Palade bodyIEA
GO:0045178 basal part of cellIEA
GO:0048237 rough endoplasmic reticulum lumenIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-162582 Signal TransductionTAS
R-HSA-372790 Signaling by GPCRTAS
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)TAS
R-HSA-375276 Peptide ligand-binding receptorsTAS
R-HSA-388396 GPCR downstream signallingTAS
R-HSA-416476 G alpha (q) signalling eventsTAS
R-HSA-500792 GPCR ligand bindingTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0165 Cleavage on pair of basic residues
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal
KW-0838 Vasoactive
KW-0839 Vasoconstrictor

Interpro

InterPro ID InterPro Term
IPR020475 Endothelin
IPR019764 Endothelin_toxin_CS
IPR001928 Endothln-like_toxin

PROSITE

PROSITE ID PROSITE Term
PS00270 ENDOTHELIN

Pfam

Pfam ID Pfam Term
PF00322 Endothelin

Protein-protein interaction

Protein-miRNA interaction