InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CASR

Summary

InnateDB Protein

IDBP-475164.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CASR

Protein Name

calcium-sensing receptor

Synonyms

CAR; EIG8; FHH; FIH; GPRC2A; HHC; HHC1; HYPOC1; NSHPT; PCAR1;

Species

Homo sapiens

Ensembl Protein

ENSP00000418685

InnateDB Gene

IDBG-52381 (CASR)

Protein Structure

UniProt Annotation

Function

Senses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G- protein that activates a phosphatidylinositol-calcium second messenger system.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:20861236}; Multi-pass membrane protein {ECO:0000269PubMed:20861236}.

Disease Associations

Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]: 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. {ECO:0000269PubMed:11762699, ECO:0000269PubMed:15572418, ECO:0000269PubMed:15579740, ECO:0000269PubMed:15879434, ECO:0000269PubMed:16598859, ECO:0000269PubMed:17473068, ECO:0000269PubMed:17698911, ECO:0000269PubMed:21643651, ECO:0000269PubMed:7673400, ECO:0000269PubMed:7726161, ECO:0000269PubMed:7916660, ECO:0000269PubMed:9298824}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]: 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. {ECO:0000269PubMed:8675635, ECO:0000269PubMed:9253359}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]: 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. {ECO:0000269PubMed:10487661, ECO:0000269PubMed:12050233, ECO:0000269PubMed:12107202, ECO:0000269PubMed:12241879, ECO:0000269PubMed:12574188, ECO:0000269PubMed:12915654, ECO:0000269PubMed:15551332, ECO:0000269PubMed:16608894, ECO:0000269PubMed:7874174, ECO:0000269PubMed:8733126, ECO:0000269PubMed:8813042, ECO:0000269PubMed:9253358, ECO:0000269PubMed:9661634, ECO:0000269PubMed:9920108}. Note=The disease is caused by mutations affecting the gene represented in this entry.Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]: 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. {ECO:0000269PubMed:18756473}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Note=Homozygous defects in CASR can be a cause of primary hyperparathyroidism in adulthood. Patients suffer from osteoporosis and renal calculi, have marked hypercalcemia and increased serum PTH concentrations.

Tissue Specificity

Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta. {ECO:0000269PubMed:18756473}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004435	phosphatidylinositol phospholipase C activity
GO:0004930	G-protein coupled receptor activity
GO:0005515	protein binding

Biological Process

GO:0001503	ossification
GO:0005513	detection of calcium ion
GO:0006874	cellular calcium ion homeostasis
GO:0007186	G-protein coupled receptor signaling pathway
GO:0007635	chemosensory behavior
GO:0008152	metabolic process
GO:0009653	anatomical structure morphogenesis
GO:0070509	calcium ion import

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000337 GPCR, family 3
IPR001828 Extracellular ligand-binding receptor
IPR004073 GPCR, family 3, vomeronasal receptor, type 2
IPR009030 Insulin-like growth factor binding protein, N-terminal
IPR011500 GPCR, family 3, nine cysteines domain
IPR017978 GPCR, family 3, C-terminal
IPR028082 Periplasmic binding protein-like I

PFAM

PF01094
PF07562
PF00003

PRINTS

PR00248
PR01535

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P41180