UniProt functional annotation for P05305



	UniProt functional annotation for P05305

UniProt code: P05305.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: 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). {ECO:0000250|UniProtKB:P09558, ECO:0000269|PubMed:19086031}.

Subcellular location: Secreted.

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

Polymorphism: EDN1 genetic variants may influence high density lipoprotein cholesterol (HDLC) levels in some populations and in a sex- specific manner, defining the high density lipoprotein cholesterol level quantitative trait locus 7 (HDLCQ7) [MIM:618979]. {ECO:0000269|PubMed:17357073}.

Disease: 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:0000269|PubMed:24268655}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: 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:0000269|PubMed:24268655}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the endothelin/sarafotoxin family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		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). {ECO:0000250\|UniProtKB:P09558, ECO:0000269\|PubMed:19086031}.


Subcellular location:		Secreted.
Tissue specificity:		Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. {ECO:0000269\|PubMed:9284755}.
Polymorphism:		EDN1 genetic variants may influence high density lipoprotein cholesterol (HDLC) levels in some populations and in a sex- specific manner, defining the high density lipoprotein cholesterol level quantitative trait locus 7 (HDLCQ7) [MIM:618979]. {ECO:0000269\|PubMed:17357073}.
Disease:		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:0000269\|PubMed:24268655}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		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:0000269\|PubMed:24268655}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the endothelin/sarafotoxin family. {ECO:0000305}.