EDNRA
This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants.
Full Name
endothelin receptor type A
Research Area
Receptor for endothelin-1. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of binding affinities for ET-A is: ET1> ET2>> ET3.
Biological Process
Activation of adenylate cyclase activity Source: ProtInc
Activation of phospholipase C activity Source: ProtInc
Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway Source: Ensembl
Artery smooth muscle contraction Source: BHF-UCL
Branching involved in blood vessel morphogenesis Source: Ensembl
Cell population proliferation Source: ProtInc
Enteric nervous system development Source: InterPro
G protein-coupled receptor signaling pathway Source: UniProtKB
Head development Source: Ensembl
Heart development Source: Ensembl
In utero embryonic development Source: Ensembl
Neural crest cell development Source: Ensembl
Positive regulation of cytosolic calcium ion concentration Source: ProtInc
Regulation of blood pressure Source: InterPro
Regulation of glucose transmembrane transport Source: Ensembl
Respiratory gaseous exchange by respiratory system Source: UniProtKB
Response to hypoxia Source: Ensembl
Signal transduction Source: ProtInc
Smooth muscle contraction Source: ProtInc
Vasoconstriction Source: BHF-UCL
Cellular Location
Cell membrane
Involvement in disease
Mandibulofacial dysostosis with alopecia (MFDA):
A form of mandibulofacial dysostosis, a disorder characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. MFDA features include maxillary dysmorphism with dysplastic zygomatic arch, hypoplastic mandible, scalp alopecia, scant eyebrows and eyelashes, severe hypoplasia or aplasia of eyelids, small cupped dysplastic ears, conductive hearing loss, cleft palate, dental anomalies, micrognathia, and limited jaw mobility.
Topology
Extracellular: 21-80
Helical: 81-102
Cytoplasmic: 103-112
Helical: 113-132
Extracellular: 133-159
Helical: 160-181
Cytoplasmic: 182-205
Helical: 206-229
Extracellular: 230-256
Helical: 257-278
Cytoplasmic: 279-306
Helical: 307-328
Extracellular: 329-347
Helical: 348-372
Cytoplasmic: 373-427
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Datasheet