Sequence in raw or FASTA format:
CASR calcium-sensing receptor [Homo sapiens (human)]
|Entrez Gene ID||846|
|Full Name||calcium-sensing receptor|
|Synonyms||CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||The protein encoded by this gene is a G protein-coupled receptor that is expressed in the parathyroid hormone (PTH)-producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene cause familial hypocalciuric hypercalcemia, familial, isolated hypoparathyroidism, and neonatal severe primary hyperparathyroidism. [provided by RefSeq, Jul 2008].|
Hypocalciuric hypercalcemia, type I, 145980 (3); Hyperparathyroidism,
|WP501||GPCRs, Class C Metabotropic glutamate, pheromone|
|ecadherin_keratinocyte_pathway||E-cadherin signaling in keratinocytes|
|REACT_19184||GPCR downstream signaling|
|REACT_19231||G alpha (i) signalling events|
|REACT_18283||G alpha (q) signalling events|
|REACT_14797||Signaling by GPCR|
|REACT_18319||Class C/3 (Metabotropic glutamate/pheromone receptors)|
|REACT_21340||GPCR ligand binding|
|REACT_120966||Gastrin-CREB signalling pathway via PKC and MAPK|
|Homo sapiens (human)||CASR||NP_001171536.1|
|Pan troglodytes (chimpanzee)||CASR||XP_516689.2|
|Macaca mulatta (Rhesus monkey)||CASR||XP_001112009.2|
|Canis lupus familiaris (dog)||CASR||NP_001074978.1|
|Bos taurus (cattle)||CASR||NP_776427.1|
|Mus musculus (house mouse)||Casr||NP_038831.2|
|Rattus norvegicus (Norway rat)||Casr||NP_058692.1|
|Gallus gallus (chicken)||CASR||XP_416491.3|
|Danio rerio (zebrafish)||LOC560607||XP_689097.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||LOC100496505||XP_004919842.1|
|GO:0005513||detection of calcium ion||TAS|
|GO:0006874||cellular calcium ion homeostasis||TAS|
|GO:0007186||G-protein coupled receptor signaling pathway||IEA|
|GO:0009653||anatomical structure morphogenesis||TAS|
|GO:0070509||calcium ion import||IDA|
|GO:0005887||integral component of plasma membrane||TAS|
|GO:0004435||phosphatidylinositol phospholipase C activity||TAS|
|GO:0004930||G-protein coupled receptor activity||IEA|
What is the normal function of the CASR gene?
The CASR gene provides instructions for making a protein called the calcium-sensing receptor (CaSR). Calcium molecules attach (bind) to the CaSR, which allows this protein to monitor and regulate the amount of calcium in the blood. The receptor is turned on (activated) when a certain concentration of calcium is reached, and the activated receptor sends signals to block processes that increase the amount of calcium in the blood.
The CaSR is found in abundance in cells of the parathyroid glands. The parathyroid glands produce and release a hormone called parathyroid hormone that works to increase the levels of calcium in the blood. When calcium binds to the CaSR in the parathyroid glands, the production of parathyroid hormone is blocked, which prevents the release of more calcium into the blood. CaSR signaling also blocks the growth and division (proliferation) of cells that make up the parathyroid glands.
The CaSR is also found in kidney cells. Kidneys filter fluid and waste products in the body and can reabsorb needed nutrients and release them back into the blood. Calcium binding to the CaSR in kidney cells blocks the reabsorption of calcium from the filtered fluids.
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