CASR

The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]

calcium sensing receptor

G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:7759551, PubMed:8702647, PubMed:8636323, PubMed:8878438, PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:23966241, PubMed:25292184, PubMed:25104082, PubMed:26386835, PubMed:25766501, PubMed:22789683).
Senses fluctuations in the circulating calcium concentration and modulates the production of parathyroid hormone (PTH) in parathyroid glands (By similarity).
The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system (PubMed:7759551).
The G-protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation (PubMed:27434672, PubMed:27386547).

Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway Source: Ensembl
Anatomical structure morphogenesis Source: ProtInc
Apoptotic process Source: Ensembl
Bile acid secretion Source: Ensembl
Branching morphogenesis of an epithelial tube Source: Ensembl
Calcium ion import Source: UniProtKB
Cellular calcium ion homeostasis Source: UniProtKB
Cellular response to glucose stimulus Source: Ensembl
Cellular response to hepatocyte growth factor stimulus Source: Ensembl
Cellular response to hypoxia Source: Ensembl
Cellular response to low-density lipoprotein particle stimulus Source: Ensembl
Cellular response to peptide Source: Ensembl
Cellular response to vitamin D Source: Ensembl
Chemosensory behavior Source: ProtInc
Chloride transmembrane transport Source: Ensembl
Detection of calcium ion Source: UniProtKB
Fat pad development Source: Ensembl
G protein-coupled receptor signaling pathway Source: UniProtKB
JNK cascade Source: Ensembl
Ossification Source: ProtInc
Phospholipase C-activating G protein-coupled receptor signaling pathway Source: Ensembl
Positive regulation of ATPase activity Source: Ensembl
Positive regulation of calcium ion import Source: Ensembl
Positive regulation of cell population proliferation Source: Ensembl
Positive regulation of ERK1 and ERK2 cascade Source: Ensembl
Positive regulation of gene expression Source: Ensembl
Positive regulation of insulin secretion Source: Ensembl
Positive regulation of positive chemotaxis Source: Ensembl
Positive regulation of vasoconstriction Source: Ensembl
Regulation of calcium ion transport Source: GO_Central
Response to fibroblast growth factor Source: Ensembl
Response to ischemia Source: Ensembl
Vasodilation Source: Ensembl

Cell membrane

Hypocalciuric hypercalcemia, familial 1 (HHC1): A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.
Hyperparathyroidism, neonatal severe (NSHPT): A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy.
Hypocalcemia, autosomal dominant 1 (HYPOC1): A disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include mild or asymptomatic hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. Few patients manifest hypocalcemia and features of Bartter syndrome, including hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia.
Epilepsy, idiopathic generalized 8 (EIG8): A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures.

Extracellular: 20-612
Helical: 613-635
Cytoplasmic: 636-649
Helical: 650-670
Extracellular: 671-681
Helical: 682-700
Cytoplasmic: 701-724
Helical: 725-745
Extracellular: 746-769
Helical: 770-792
Cytoplasmic: 793-805
Helical: 806-828
Extracellular: 829-836
Helical: 837-862
Cytoplasmic: 863-1078

N-glycosylated.
Ubiquitinated by RNF19A; which induces proteasomal degradation.