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MGP000906

UniProt Annotations

Entry Information
Gene Nameendothelin 1
Protein EntryEDN1_HUMAN
UniProt IDP05305
SpeciesHuman
Comments
Comment typeDescription
DiseaseAuriculocondylar 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:0000269|PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseQuestion 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:0000269|PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionEndothelins are endothelium-derived vasoconstrictor peptides.
InteractionP25101:EDNRA; NbExp=2; IntAct=EBI-715181, EBI-6624559; P24530:EDNRB; NbExp=2; IntAct=EBI-715181, EBI-6624656;
SimilarityBelongs to the endothelin/sarafotoxin family. {ECO:0000305}.
Subcellular LocationSecreted.
Tissue SpecificityExpressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. {ECO:0000269|PubMed:9284755}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/edn1/";
Web ResourceName=R&D Systems' cytokine source book: Endothelin- 1; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1364";
Web ResourceName=Wikipedia; Note=Endothelin entry; URL="http://en.wikipedia.org/wiki/Endothelin";
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