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P41180

- CASR_HUMAN

UniProt

P41180 - CASR_HUMAN

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Protein

Extracellular calcium-sensing receptor

Gene

CASR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. G-protein coupled receptor activity Source: ProtInc
  2. phosphatidylinositol phospholipase C activity Source: ProtInc

GO - Biological processi

  1. anatomical structure morphogenesis Source: ProtInc
  2. calcium ion import Source: UniProtKB
  3. cellular calcium ion homeostasis Source: ProtInc
  4. chemosensory behavior Source: ProtInc
  5. detection of calcium ion Source: ProtInc
  6. G-protein coupled receptor signaling pathway Source: ProtInc
  7. metabolic process Source: GOC
  8. ossification Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiREACT_18283. G alpha (q) signalling events.
REACT_18319. Class C/3 (Metabotropic glutamate/pheromone receptors).
REACT_19231. G alpha (i) signalling events.

Protein family/group databases

TCDBi9.A.14.7.2. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Extracellular calcium-sensing receptor
Short name:
CaSR
Alternative name(s):
Parathyroid cell calcium-sensing receptor 1
Short name:
PCaR1
Gene namesi
Name:CASR
Synonyms:GPRC2A, PCAR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:1514. CASR.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.12 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111L → S in HHC1; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation. 1 Publication
VAR_058046
Natural varianti13 – 131L → P in HHC1; has a dose-response curve shifted to the right relative to that of wild-type; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation. 2 Publications
VAR_058047
Natural varianti21 – 211G → R in HHC1. 1 Publication
VAR_058049
Natural varianti39 – 391P → A in HHC1. 1 Publication
VAR_003585
Natural varianti62 – 621R → M in HHC1 and NSHPT; mild. 1 Publication
VAR_003586
Natural varianti66 – 661R → C in HHC1. 1 Publication
VAR_003587
Natural varianti138 – 1381T → M in HHC1. 1 Publication
VAR_003590
Natural varianti143 – 1431G → E in HHC1. 1 Publication
VAR_003591
Natural varianti171 – 1711S → N in HHC1. 1 Publication
VAR_058056
Natural varianti174 – 1741L → R in HHC1. 1 Publication
VAR_003592
Natural varianti180 – 1801F → C in HHC1; although the mutant receptor is expressed normally at the cell surface it is unresponsive with respect to intracellular signaling (MAPK activation) to increases in extracellular calcium concentrations. 1 Publication
VAR_058057
Natural varianti185 – 1851R → Q in HHC1. 1 Publication
VAR_003593
Natural varianti221 – 2211P → Q in HHC1. 1 Publication
VAR_058059
Natural varianti225 – 2251K → T in HHC1. 1 Publication
VAR_058060
Natural varianti227 – 2271R → Q in HHC1; impaired in their MAPK response to increasing extracellular calcium concentrations; less markedly impaired relative to wild-type then Leu-227; when cotransfected with wild-type the curve is right-shifted intermediate to the curve for wild-type. 2 Publications
VAR_003595
Natural varianti271 – 2711S → F in HHC1. 1 Publication
VAR_058062
Natural varianti297 – 2971E → K in HHC1 and NSHPT. 1 Publication
VAR_003596
Natural varianti397 – 3971G → R in HHC1. 1 Publication
VAR_058063
Natural varianti465 – 4651R → Q in HHC1; loss-of-function mutation; the quantity of the mutant receptor is higher than that of the wild-type receptor; dose-response curves show that the mutation significantly reduces the sensitivity of the receptor to extracellular calcium concentrations. 1 Publication
VAR_058064
Natural varianti509 – 5091G → R in HHC1. 1 Publication
Corresponds to variant rs193922423 [ dbSNP | Ensembl ].
VAR_058065
Natural varianti553 – 5531G → R in HHC1. 1 Publication
VAR_058066
Natural varianti555 – 5551I → V in HHC1. 1 Publication
VAR_058067
Natural varianti557 – 5571G → E in HHC1. 1 Publication
VAR_012649
Natural varianti562 – 5621C → Y in HHC1. 1 Publication
VAR_058068
Natural varianti582 – 5821C → F in HHC1. 1 Publication
VAR_058069
Natural varianti623 – 6231G → D in HHC1. 1 Publication
VAR_058072
Natural varianti670 – 6701G → R in HHC1. 1 Publication
VAR_058074
Natural varianti697 – 6971V → M in HHC1. 1 Publication
VAR_065494
Natural varianti728 – 7281V → F in HHC1. 1 Publication
VAR_058076
Natural varianti742 – 7421W → R in HHC1. 1 Publication
VAR_058077
Natural varianti795 – 7951R → W in HHC1. 1 Publication
VAR_003599
Natural varianti886 – 8861R → W in HHC1. 1 Publication
VAR_058084
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621R → M in HHC1 and NSHPT; mild. 1 Publication
VAR_003586
Natural varianti227 – 2271R → L in NSHPT; impaired in their MAPK response to increasing extracellular calcium concentrations; more markedly impaired relative to wild-type then Gln-227; when cotransfected with wild-type the curve is right-shifted intermediate to the curve for wild-type. 1 Publication
Corresponds to variant rs28936684 [ dbSNP | Ensembl ].
VAR_003594
Natural varianti297 – 2971E → K in HHC1 and NSHPT. 1 Publication
VAR_003596
Natural varianti582 – 5821C → Y in NSHPT. 2 Publications
VAR_003597
Natural varianti670 – 6701G → E in NSHPT. 1 Publication
VAR_058073
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.14 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471K → N in HYPOC1; the EC(50) of the mutant is significantly lower than that of wild-type. 1 Publication
VAR_058050
Natural varianti116 – 1161A → T in HYPOC1. 1 Publication
VAR_003588
Natural varianti118 – 1181N → K in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. 2 Publications
VAR_058051
Natural varianti125 – 1251L → P in HYPOC1; shifts the concentration-response curve of calcium ions to the left. 1 Publication
VAR_058052
Natural varianti127 – 1271E → A in HYPOC1. 1 Publication
VAR_003589
Natural varianti128 – 1281F → L in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor. 1 Publication
VAR_058053
Natural varianti131 – 1311C → W in HYPOC1; associated with clinical features of Bartter syndrome. 1 Publication
VAR_058054
Natural varianti151 – 1511T → M in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor. 2 Publications
VAR_058055
Natural varianti191 – 1911E → K in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor. 1 Publication
VAR_058058
Natural varianti604 – 6041E → K in HYPOC1; there is a significant leftward shift in the concentration response curves for the effects of extracellular calcium on both intracellular calcium mobilization and MAPK activity. 1 Publication
VAR_058070
Natural varianti612 – 6121F → S in HYPOC1. 1 Publication
VAR_058071
Natural varianti616 – 6161L → V in HYPOC1; does not affect the total accumulation of inositol phosphates as a function of extracellular calcium concentrations in transfected cells. 1 Publication
VAR_015414
Natural varianti681 – 6811Q → H in HYPOC1. 1 Publication
VAR_003598
Natural varianti727 – 7271L → Q in HYPOC1; the mutant receptor demonstrates a significant leftward shift in the extracellular calcium/intracellular signaling dose-response curve versus that for the wild-type receptor. 1 Publication
VAR_058075
Natural varianti767 – 7671E → K in HYPOC1. 1 Publication
VAR_021019
Natural varianti773 – 7731L → R in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. 1 Publication
VAR_058078
Natural varianti788 – 7881F → C in HYPOC1; leftward shift in the concentration-response curve for the mutant receptor; cells cotransfected with both the wild-type and the mutant receptor show an EC(50) similar to the mutant; a gain-of-function mutation rendering the receptor more sensitive than normal to activation. 1 Publication
VAR_058079
Natural varianti788 – 7881F → L in HYPOC1; induces a significant shift to the left relative to the wild-type protein in the MAPK response to increasing extracellular calcium concentrations. 1 Publication
VAR_058080
Natural varianti806 – 8061F → S in HYPOC1; does not produce a significant activating effect; decreased cell surface receptor expression. 2 Publications
VAR_003600
Natural varianti820 – 8201S → F in HYPOC1; the concentration-response curve of the mutant receptor is left-shifted and its EC(50) is significantly lower than that of the wild-type. 1 Publication
VAR_058081
Natural varianti843 – 8431A → E in HYPOC1; also in HYPOC1 associated with clinical features of Bartter syndrome; shifts the concentration-response curve of calcium ions to the left. 2 Publications
VAR_058082
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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti354 – 3541E → A in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication
VAR_060206
Natural varianti686 – 6861I → V in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication
VAR_060207
Natural varianti898 – 8981R → Q in EIG8. 1 Publication
VAR_060208
Natural varianti988 – 9881A → G in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication
VAR_060209
Natural varianti988 – 9881A → V in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication
VAR_060210
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.

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi145980. phenotype.
239200. phenotype.
601198. phenotype.
601199. gene+phenotype.
612899. phenotype.
Orphaneti428. Autosomal dominant hypocalcemia.
263417. Bartter syndrome with hypocalcemia.
93372. Familial hypocalciuric hypercalcemia type 1.
189466. Familial isolated hypoparathyroidism due to impaired PTH secretion.
417. Neonatal severe primary hyperparathyroidism.
PharmGKBiPA26097.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919Sequence AnalysisAdd
BLAST
Chaini20 – 10781059Extracellular calcium-sensing receptorPRO_0000012946Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi90 – 901N-linked (GlcNAc...)Sequence Analysis
Glycosylationi130 – 1301N-linked (GlcNAc...)Sequence Analysis
Glycosylationi261 – 2611N-linked (GlcNAc...)Sequence Analysis
Glycosylationi287 – 2871N-linked (GlcNAc...)Sequence Analysis
Glycosylationi386 – 3861N-linked (GlcNAc...)Sequence Analysis
Glycosylationi400 – 4001N-linked (GlcNAc...)Sequence Analysis
Glycosylationi446 – 4461N-linked (GlcNAc...)Sequence Analysis
Glycosylationi468 – 4681N-linked (GlcNAc...)Sequence Analysis
Glycosylationi488 – 4881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi541 – 5411N-linked (GlcNAc...)Sequence Analysis
Glycosylationi594 – 5941N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylated.2 Publications
Ubiquitinated by RNF19A; which induces proteasomal degradation.1 Publication

Keywords - PTMi

Glycoprotein, Ubl conjugation

Proteomic databases

PaxDbiP41180.
PRIDEiP41180.

PTM databases

PhosphoSiteiP41180.

Expressioni

Tissue specificityi

Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta.1 Publication

Gene expression databases

BgeeiP41180.
CleanExiHS_CASR.
ExpressionAtlasiP41180. baseline and differential.
GenevestigatoriP41180.

Organism-specific databases

HPAiHPA039686.

Interactioni

Subunit structurei

Interacts with VCP and RNF19A. Interacts with ARRB1 (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
TMED2Q153633EBI-4400127,EBI-998485

Protein-protein interaction databases

BioGridi107296. 10 interactions.
DIPiDIP-5975N.
IntActiP41180. 1 interaction.
MINTiMINT-201342.
STRINGi9606.ENSP00000296154.

Structurei

3D structure databases

ProteinModelPortaliP41180.
SMRiP41180. Positions 26-493, 603-867.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini20 – 612593ExtracellularSequence AnalysisAdd
BLAST
Topological domaini636 – 64914CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini671 – 68111ExtracellularSequence AnalysisAdd
BLAST
Topological domaini701 – 72424CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini746 – 76924ExtracellularSequence AnalysisAdd
BLAST
Topological domaini793 – 80513CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini829 – 8368ExtracellularSequence Analysis
Topological domaini863 – 1078216CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei613 – 63523Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei650 – 67021Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei682 – 70019Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei725 – 74521Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei770 – 79223Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei806 – 82823Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei837 – 86226Helical; Name=7Sequence AnalysisAdd
BLAST

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni880 – 90021Interaction with RNF19AAdd
BLAST

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG295200.
HOVERGENiHBG052876.
InParanoidiP41180.
KOiK04612.
OrthoDBiEOG7DZ8J8.
PhylomeDBiP41180.

Family and domain databases

InterProiIPR001828. ANF_lig-bd_rcpt.
IPR000337. GPCR_3.
IPR011500. GPCR_3_9-Cys_dom.
IPR017978. GPCR_3_C.
IPR017979. GPCR_3_CS.
IPR028082. Peripla_BP_I.
[Graphical view]
PfamiPF00003. 7tm_3. 1 hit.
PF01094. ANF_receptor. 1 hit.
PF07562. NCD3G. 1 hit.
[Graphical view]
PRINTSiPR00248. GPCRMGR.
SUPFAMiSSF53822. SSF53822. 1 hit.
PROSITEiPS00979. G_PROTEIN_RECEP_F3_1. 1 hit.
PS00980. G_PROTEIN_RECEP_F3_2. 1 hit.
PS00981. G_PROTEIN_RECEP_F3_3. 1 hit.
PS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P41180) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD
60 70 80 90 100
LKSRPESVEC IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT
110 120 130 140 150
CNTVSKALEA TLSFVAQNKI DSLNLDEFCN CSEHIPSTIA VVGATGSGVS
160 170 180 190 200
TAVANLLGLF YIPQVSYASS SRLLSNKNQF KSFLRTIPND EHQATAMADI
210 220 230 240 250
IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS ELISQYSDEE
260 270 280 290 300
EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA
310 320 330 340 350
SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE
360 370 380 390 400
FWEETFNCHL QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN
410 420 430 440 450
ISSVETPYID YTHLRISYNV YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA
460 470 480 490 500
DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD ECGDLVGNYS IINWHLSPED
510 520 530 540 550
GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS NCSRDCLAGT
560 570 580 590 600
RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA
610 620 630 640 650
KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL
660 670 680 690 700
SYLLLFSLLC CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN
710 720 730 740 750
RVLLVFEAKI PTSFHRKWWG LNLQFLLVFL CTFMQIVICV IWLYTAPPSS
760 770 780 790 800
YRNQELEDEI IFITCHEGSL MALGFLIGYT CLLAAICFFF AFKSRKLPEN
810 820 830 840 850
FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA ILAASFGLLA
860 870 880 890 900
CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS
910 920 930 940 950
SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL
960 970 980 990 1000
PQQQRSQQQP RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA
1010 1020 1030 1040 1050
QKSSDTLTRH QPLLPLQCGE TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL
1060 1070
SPALVVSSSQ SFVISGGGST VTENVVNS
Length:1,078
Mass (Da):120,674
Last modified:November 1, 1995 - v2
Checksum:i620C57DB1A83E1DB
GO
Isoform 2 (identifier: P41180-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     536-536: E → EPLTFVLSVLQ

Show »
Length:1,088
Mass (Da):121,772
Checksum:i0D916FB23151762A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti857 – 8571I → T in BAA09453. (PubMed:7677761)Curated
Sequence conflicti878 – 8781A → R in BAA09453. (PubMed:7677761)Curated
Sequence conflicti926 – 9261Q → R in AAA86503. (PubMed:7759551)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti11 – 111L → S in HHC1; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation. 1 Publication
VAR_058046
Natural varianti13 – 131L → P in HHC1; has a dose-response curve shifted to the right relative to that of wild-type; demonstrates reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; fails to be inserted in the microsomes and does not undergo proper glycosylation. 2 Publications
VAR_058047
Natural varianti14 – 141T → A Does not demonstrate reduced intracellular and plasma membrane expression and signaling to the MAPK pathway in response to extracellular calcium relative to wild-type; does not fail to be inserted in the microsomes and does undergo proper glycosylation. 1 Publication
VAR_058048
Natural varianti21 – 211G → R in HHC1. 1 Publication
VAR_058049
Natural varianti27 – 271Q → R Found in a patient with primary hyperparathyroidism detected at adulthood; mutant CASR is activated by a higher calcium concentrations than the wild-type. 1 Publication
VAR_065198
Natural varianti39 – 391P → A in HHC1. 1 Publication
VAR_003585
Natural varianti47 – 471K → N in HYPOC1; the EC(50) of the mutant is significantly lower than that of wild-type. 1 Publication
VAR_058050
Natural varianti62 – 621R → M in HHC1 and NSHPT; mild. 1 Publication
VAR_003586
Natural varianti66 – 661R → C in HHC1. 1 Publication
VAR_003587
Natural varianti100 – 1001T → I Found in a patient with primary hyperparathyroidism detected at adulthood. 1 Publication
VAR_065199
Natural varianti116 – 1161A → T in HYPOC1. 1 Publication
VAR_003588
Natural varianti118 – 1181N → K in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. 2 Publications
VAR_058051
Natural varianti125 – 1251L → P in HYPOC1; shifts the concentration-response curve of calcium ions to the left. 1 Publication
VAR_058052
Natural varianti127 – 1271E → A in HYPOC1. 1 Publication
VAR_003589
Natural varianti128 – 1281F → L in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor. 1 Publication
VAR_058053
Natural varianti131 – 1311C → W in HYPOC1; associated with clinical features of Bartter syndrome. 1 Publication
VAR_058054
Natural varianti138 – 1381T → M in HHC1. 1 Publication
VAR_003590
Natural varianti143 – 1431G → E in HHC1. 1 Publication
VAR_003591
Natural varianti151 – 1511T → M in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor. 2 Publications
VAR_058055
Natural varianti171 – 1711S → N in HHC1. 1 Publication
VAR_058056
Natural varianti174 – 1741L → R in HHC1. 1 Publication
VAR_003592
Natural varianti180 – 1801F → C in HHC1; although the mutant receptor is expressed normally at the cell surface it is unresponsive with respect to intracellular signaling (MAPK activation) to increases in extracellular calcium concentrations. 1 Publication
VAR_058057
Natural varianti185 – 1851R → Q in HHC1. 1 Publication
VAR_003593
Natural varianti191 – 1911E → K in HYPOC1; there is a shift in the dose-response curve so that the extracellular calcium concentration needed to produce half-maximal increase in total inositol phosphate in the cells is significantly lower than the one required for the wild-type receptor. 1 Publication
VAR_058058
Natural varianti221 – 2211P → Q in HHC1. 1 Publication
VAR_058059
Natural varianti225 – 2251K → T in HHC1. 1 Publication
VAR_058060
Natural varianti227 – 2271R → L in NSHPT; impaired in their MAPK response to increasing extracellular calcium concentrations; more markedly impaired relative to wild-type then Gln-227; when cotransfected with wild-type the curve is right-shifted intermediate to the curve for wild-type. 1 Publication
Corresponds to variant rs28936684 [ dbSNP | Ensembl ].
VAR_003594
Natural varianti227 – 2271R → Q in HHC1; impaired in their MAPK response to increasing extracellular calcium concentrations; less markedly impaired relative to wild-type then Leu-227; when cotransfected with wild-type the curve is right-shifted intermediate to the curve for wild-type. 2 Publications
VAR_003595
Natural varianti250 – 2501E → K.1 Publication
Corresponds to variant rs62269092 [ dbSNP | Ensembl ].
VAR_058061
Natural varianti271 – 2711S → F in HHC1. 1 Publication
VAR_058062
Natural varianti297 – 2971E → K in HHC1 and NSHPT. 1 Publication
VAR_003596
Natural varianti336 – 3361Missing Found in a patient with primary hyperparathyroidism detected at adulthood. 1 Publication
VAR_065200
Natural varianti339 – 3391P → T Mutation found in a patient with primary hyperparathyroidism detected at adulthood; inactivating mutation; mutant CASR is activated by a higher calcium concentrations than the wild-type. 1 Publication
VAR_065201
Natural varianti354 – 3541E → A in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication
VAR_060206
Natural varianti397 – 3971G → R in HHC1. 1 Publication
VAR_058063
Natural varianti465 – 4651R → Q in HHC1; loss-of-function mutation; the quantity of the mutant receptor is higher than that of the wild-type receptor; dose-response curves show that the mutation significantly reduces the sensitivity of the receptor to extracellular calcium concentrations. 1 Publication
VAR_058064
Natural varianti509 – 5091G → R in HHC1. 1 Publication
Corresponds to variant rs193922423 [ dbSNP | Ensembl ].
VAR_058065
Natural varianti553 – 5531G → R in HHC1. 1 Publication
VAR_058066
Natural varianti555 – 5551I → V in HHC1. 1 Publication
VAR_058067
Natural varianti557 – 5571G → E in HHC1. 1 Publication
VAR_012649
Natural varianti562 – 5621C → Y in HHC1. 1 Publication
VAR_058068
Natural varianti582 – 5821C → F in HHC1. 1 Publication
VAR_058069
Natural varianti582 – 5821C → Y in NSHPT. 2 Publications
VAR_003597
Natural varianti604 – 6041E → K in HYPOC1; there is a significant leftward shift in the concentration response curves for the effects of extracellular calcium on both intracellular calcium mobilization and MAPK activity. 1 Publication
VAR_058070
Natural varianti612 – 6121F → S in HYPOC1. 1 Publication
VAR_058071
Natural varianti616 – 6161L → V in HYPOC1; does not affect the total accumulation of inositol phosphates as a function of extracellular calcium concentrations in transfected cells. 1 Publication
VAR_015414
Natural varianti623 – 6231G → D in HHC1. 1 Publication
VAR_058072
Natural varianti650 – 6501L → P Found in a patient with primary hyperparathyroidism detected at adulthood. 1 Publication
VAR_065202
Natural varianti670 – 6701G → E in NSHPT. 1 Publication
VAR_058073
Natural varianti670 – 6701G → R in HHC1. 1 Publication
VAR_058074
Natural varianti681 – 6811Q → H in HYPOC1. 1 Publication
VAR_003598
Natural varianti686 – 6861I → V in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication
VAR_060207
Natural varianti689 – 6891V → M Found in a patient with primary hyperparathyroidism detected at adulthood. 1 Publication
VAR_065203
Natural varianti697 – 6971V → M in HHC1. 1 Publication
VAR_065494
Natural varianti727 – 7271L → Q in HYPOC1; the mutant receptor demonstrates a significant leftward shift in the extracellular calcium/intracellular signaling dose-response curve versus that for the wild-type receptor. 1 Publication
VAR_058075
Natural varianti728 – 7281V → F in HHC1. 1 Publication
VAR_058076
Natural varianti742 – 7421W → R in HHC1. 1 Publication
VAR_058077
Natural varianti767 – 7671E → K in HYPOC1. 1 Publication
VAR_021019
Natural varianti773 – 7731L → R in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. 1 Publication
VAR_058078
Natural varianti788 – 7881F → C in HYPOC1; leftward shift in the concentration-response curve for the mutant receptor; cells cotransfected with both the wild-type and the mutant receptor show an EC(50) similar to the mutant; a gain-of-function mutation rendering the receptor more sensitive than normal to activation. 1 Publication
VAR_058079
Natural varianti788 – 7881F → L in HYPOC1; induces a significant shift to the left relative to the wild-type protein in the MAPK response to increasing extracellular calcium concentrations. 1 Publication
VAR_058080
Natural varianti795 – 7951R → W in HHC1. 1 Publication
VAR_003599
Natural varianti806 – 8061F → S in HYPOC1; does not produce a significant activating effect; decreased cell surface receptor expression. 2 Publications
VAR_003600
Natural varianti820 – 8201S → F in HYPOC1; the concentration-response curve of the mutant receptor is left-shifted and its EC(50) is significantly lower than that of the wild-type. 1 Publication
VAR_058081
Natural varianti843 – 8431A → E in HYPOC1; also in HYPOC1 associated with clinical features of Bartter syndrome; shifts the concentration-response curve of calcium ions to the left. 2 Publications
VAR_058082
Natural varianti851 – 8511C → S.1 Publication
VAR_003601
Natural varianti881 – 8811F → L Probable disease-associated mutation found in a patient with hypercalciuric hypercalcemia; mutant CASR has a right-shifted dose-response to extracellular calcium concentrations; activated by a higher calcium concentrations than the wild-type. 1 Publication
VAR_058083
Natural varianti886 – 8861R → W in HHC1. 1 Publication
VAR_058084
Natural varianti898 – 8981R → Q in EIG8. 1 Publication
VAR_060208
Natural varianti951 – 9511P → T.
Corresponds to variant rs4987051 [ dbSNP | Ensembl ].
VAR_020220
Natural varianti986 – 9861A → S Associated with high serum level of calcium; is also a potential predisposing factor in disorders of bone and mineral metabolism. 8 Publications
Corresponds to variant rs1801725 [ dbSNP | Ensembl ].
VAR_014450
Natural varianti988 – 9881A → G in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication
VAR_060209
Natural varianti988 – 9881A → V in EIG8; patients present juvenile myoclonus epilepsy. 1 Publication
VAR_060210
Natural varianti990 – 9901R → G Associated with low serum level of calcium. 8 Publications
Corresponds to variant rs1042636 [ dbSNP | Ensembl ].
VAR_020221
Natural varianti1011 – 10111Q → E Associated with high serum level of calcium. 4 Publications
Corresponds to variant rs1801726 [ dbSNP | Ensembl ].
VAR_014451

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei536 – 5361E → EPLTFVLSVLQ in isoform 2. 1 PublicationVSP_002035

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X81086 Genomic DNA. Translation: CAA56990.1.
U20759 mRNA. Translation: AAA86503.1.
U20760 mRNA. Translation: AAA86504.1.
D50855 mRNA. Translation: BAA09453.1.
S83176 mRNA. Translation: AAB46873.1.
S79217 mRNA. Translation: AAB35262.2.
S81755 mRNA. Translation: AAD14370.1.
S68032 Genomic DNA. Translation: AAB29413.2. Sequence problems.
S68033 Genomic DNA. Translation: AAB29414.1.
S68036 Genomic DNA. Translation: AAB29415.1.
DQ088967 Genomic DNA. Translation: AAY68221.1.
BC104999 mRNA. Translation: AAI05000.1.
BC112236 mRNA. Translation: AAI12237.1.
CCDSiCCDS3010.1. [P41180-1]
CCDS54632.1. [P41180-2]
PIRiA56715.
B56715.
RefSeqiNP_000379.2. NM_000388.3. [P41180-1]
NP_001171536.1. NM_001178065.1. [P41180-2]
UniGeneiHs.435615.

Genome annotation databases

EnsembliENST00000296154; ENSP00000296154; ENSG00000036828.
ENST00000490131; ENSP00000418685; ENSG00000036828.
GeneIDi846.
KEGGihsa:846.
UCSCiuc003eev.4. human. [P41180-1]
uc003eew.4. human. [P41180-2]

Polymorphism databases

DMDMi1168781.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X81086 Genomic DNA. Translation: CAA56990.1 .
U20759 mRNA. Translation: AAA86503.1 .
U20760 mRNA. Translation: AAA86504.1 .
D50855 mRNA. Translation: BAA09453.1 .
S83176 mRNA. Translation: AAB46873.1 .
S79217 mRNA. Translation: AAB35262.2 .
S81755 mRNA. Translation: AAD14370.1 .
S68032 Genomic DNA. Translation: AAB29413.2 . Sequence problems.
S68033 Genomic DNA. Translation: AAB29414.1 .
S68036 Genomic DNA. Translation: AAB29415.1 .
DQ088967 Genomic DNA. Translation: AAY68221.1 .
BC104999 mRNA. Translation: AAI05000.1 .
BC112236 mRNA. Translation: AAI12237.1 .
CCDSi CCDS3010.1. [P41180-1 ]
CCDS54632.1. [P41180-2 ]
PIRi A56715.
B56715.
RefSeqi NP_000379.2. NM_000388.3. [P41180-1 ]
NP_001171536.1. NM_001178065.1. [P41180-2 ]
UniGenei Hs.435615.

3D structure databases

ProteinModelPortali P41180.
SMRi P41180. Positions 26-493, 603-867.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107296. 10 interactions.
DIPi DIP-5975N.
IntActi P41180. 1 interaction.
MINTi MINT-201342.
STRINGi 9606.ENSP00000296154.

Chemistry

BindingDBi P41180.
ChEMBLi CHEMBL1878.
DrugBanki DB01012. Cinacalcet.
GuidetoPHARMACOLOGYi 54.

Protein family/group databases

TCDBi 9.A.14.7.2. the g-protein-coupled receptor (gpcr) family.
GPCRDBi Search...

PTM databases

PhosphoSitei P41180.

Polymorphism databases

DMDMi 1168781.

Proteomic databases

PaxDbi P41180.
PRIDEi P41180.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000296154 ; ENSP00000296154 ; ENSG00000036828 .
ENST00000490131 ; ENSP00000418685 ; ENSG00000036828 .
GeneIDi 846.
KEGGi hsa:846.
UCSCi uc003eev.4. human. [P41180-1 ]
uc003eew.4. human. [P41180-2 ]

Organism-specific databases

CTDi 846.
GeneCardsi GC03P121902.
H-InvDB HIX0163457.
HGNCi HGNC:1514. CASR.
HPAi HPA039686.
MIMi 145980. phenotype.
239200. phenotype.
601198. phenotype.
601199. gene+phenotype.
612899. phenotype.
neXtProti NX_P41180.
Orphaneti 428. Autosomal dominant hypocalcemia.
263417. Bartter syndrome with hypocalcemia.
93372. Familial hypocalciuric hypercalcemia type 1.
189466. Familial isolated hypoparathyroidism due to impaired PTH secretion.
417. Neonatal severe primary hyperparathyroidism.
PharmGKBi PA26097.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG295200.
HOVERGENi HBG052876.
InParanoidi P41180.
KOi K04612.
OrthoDBi EOG7DZ8J8.
PhylomeDBi P41180.

Enzyme and pathway databases

Reactomei REACT_18283. G alpha (q) signalling events.
REACT_18319. Class C/3 (Metabotropic glutamate/pheromone receptors).
REACT_19231. G alpha (i) signalling events.

Miscellaneous databases

GeneWikii Calcium-sensing_receptor.
GenomeRNAii 846.
NextBioi 3546.
PROi P41180.
SOURCEi Search...

Gene expression databases

Bgeei P41180.
CleanExi HS_CASR.
ExpressionAtlasi P41180. baseline and differential.
Genevestigatori P41180.

Family and domain databases

InterProi IPR001828. ANF_lig-bd_rcpt.
IPR000337. GPCR_3.
IPR011500. GPCR_3_9-Cys_dom.
IPR017978. GPCR_3_C.
IPR017979. GPCR_3_CS.
IPR028082. Peripla_BP_I.
[Graphical view ]
Pfami PF00003. 7tm_3. 1 hit.
PF01094. ANF_receptor. 1 hit.
PF07562. NCD3G. 1 hit.
[Graphical view ]
PRINTSi PR00248. GPCRMGR.
SUPFAMi SSF53822. SSF53822. 1 hit.
PROSITEi PS00979. G_PROTEIN_RECEP_F3_1. 1 hit.
PS00980. G_PROTEIN_RECEP_F3_2. 1 hit.
PS00981. G_PROTEIN_RECEP_F3_3. 1 hit.
PS50259. G_PROTEIN_RECEP_F3_4. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Pearce S.H.S., Thakker R.V.
    Submitted (DEC-1994) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs."
    Garrett J.E., Capuano I.V., Hammerland L.G., Hung B.C., Brown E.M., Hebert S.C., Nemeth E.F., Fuller F.
    J. Biol. Chem. 270:12919-12925(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT GLY-990.
    Tissue: Parathyroid.
  3. "Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney."
    Aida K., Koishi S., Tawata M., Onaya T.
    Biochem. Biophys. Res. Commun. 214:524-529(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Kidney.
  4. "Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion."
    Freichel M., Zink-Lorenz A., Holloschi A., Hafner M., Flockerzi V., Raue F.
    Endocrinology 137:3842-3848(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  5. SeattleSNPs variation discovery resource
    Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-986; GLY-990 AND GLU-1011.
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  7. "Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene."
    Aida K., Koishi S., Inoue M., Nakazato M., Tawata M., Onaya T.
    J. Clin. Endocrinol. Metab. 80:2594-2598(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-61, VARIANT HHC1 ALA-39.
  8. "Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor."
    Bikle D.D., Ratnam A., Mauro T., Harris J., Pillai S.
    J. Clin. Invest. 97:1085-1093(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 643-908.
  9. "Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin."
    Huang Y., Niwa J., Sobue G., Breitwieser G.E.
    J. Biol. Chem. 281:11610-11617(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH VCP AND RNF19A, GLYCOSYLATION, UBIQUITINATION.
  10. "Rab1 small GTP-binding protein regulates cell surface trafficking of the human calcium-sensing receptor."
    Zhuang X., Adipietro K.A., Datta S., Northup J.K., Ray K.
    Endocrinology 151:5114-5123(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, GLYCOSYLATION.
  11. "Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism."
    Pollak M.R., Brown E.M., Chou Y.-H.W., Hebert S.C., Marx S.J., Steinmann B., Levi T., Seidman C.E., Seidman J.G.
    Cell 75:1297-1303(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHC1 GLN-185; LYS-297 AND TRP-795.
  12. "Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation."
    Pollak M.R., Brown E.M., Estep H.L., McLaine P.N., Kifor O., Park J., Hebert S.C., Seidman C.E., Seidman J.G.
    Nat. Genet. 8:303-307(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPOC1 ALA-127.
  13. "Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia."
    Chou Y.-H.W., Pollak M.R., Brandi M.L., Toss G., Arnqvist H., Atkinson A.B., Papapoulos S.E., Marx S., Brown E.M., Seidman J.G., Seidman C.E.
    Am. J. Hum. Genet. 56:1075-1079(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHC1 MET-62; CYS-66; MET-138; GLU-143 AND GLN-227.
  14. "Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism."
    Pearce S.H.S., Trump D., Wooding C., Besser G.M., Chew S.L., Grant D.B., Heath D.A., Hughes I.A., Paterson C.R., Whyte M.P., Thakker R.V.
    J. Clin. Invest. 96:2683-2692(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NSHPT LEU-227 AND TYR-582.
  15. "The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism."
    Lovlie R., Eiken H.G., Sorheim J.I., Boman H.
    Hum. Genet. 98:129-133(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FIH MET-151.
  16. "Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism."
    Baron J., Winer K.K., Yanovski J.A., Cunningham A.W., Laue L., Zimmerman D., Cutler G.B. Jr.
    Hum. Mol. Genet. 5:601-606(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HYPOC1 THR-116; HIS-681 AND SER-806, VARIANT SER-851.
  17. "A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor."
    Pearce S.H.S., Williamson C., Kifor O., Bai M., Coulthard M.G., Davies M., Lewis-Barned N., McCredie D., Powell H., Kendall-Taylor P., Brown E.M., Thakker R.V.
    N. Engl. J. Med. 335:1115-1122(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HYPOC1 LYS-118; LEU-128; MET-151; LYS-191 AND SER-612, CHARACTERIZATION OF VARIANTS HYPOC1 LEU-128; MET-151 AND LYS-191.
  18. "A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia."
    Ward B.K., Stuckey B.G.A., Gutteridge D.H., Laing N.G., Pullan P.T., Ratajczak T.
    Hum. Mutat. 10:233-235(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHC1 ARG-174.
  19. "Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor."
    De Luca F., Ray K., Mancilla E.E., Fan G.-F., Winer K.K., Gore P., Spiegel A.M., Baron J.
    J. Clin. Endocrinol. Metab. 82:2710-2715(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HYPOC1 LYS-118; ARG-773 AND SER-806, CHARACTERIZATION OF VARIANTS HYPOC1 LYS-118; ARG-773 AND SER-806.
  20. "Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism."
    Kobayashi M., Tanaka H., Tsuzuki K., Tsuyuki M., Igaki H., Ichinose Y., Aya K., Nishioka N., Seino Y.
    J. Clin. Endocrinol. Metab. 82:2716-2719(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT NSHPT GLU-670.
  21. "Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor."
    Watanabe T., Bai M., Lane C.R., Matsumoto S., Minamitani K., Minagawa M., Niimi H., Brown E.M., Yasuda T.
    J. Clin. Endocrinol. Metab. 83:2497-2502(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPOC1 CYS-788, CHARACTERIZATION OF VARIANT HYPOC1 CYS-788.
  22. "An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor."
    Chikatsu N., Fukumoto S., Suzawa M., Tanaka Y., Takeuchi Y., Takeda S., Tamura Y., Matsumoto T., Fujita T.
    Clin. Endocrinol. (Oxf.) 50:537-543(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARG-27, CHARACTERIZATION OF VARIANT ARG-27, INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM.
  23. "A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia."
    Okazaki R., Chikatsu N., Nakatsu M., Takeuchi Y., Ajima M., Miki J., Fujita T., Arai M., Totsuka Y., Tanaka K., Fukumoto S.
    J. Clin. Endocrinol. Metab. 84:363-366(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPOC1 ASN-47, CHARACTERIZATION OF VARIANT HYPOC1 ASN-47.
  24. "Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis."
    Stock J.L., Brown R.S., Baron J., Coderre J.A., Mancilla E., De Luca F., Ray K., Mericq M.V.
    J. Clin. Endocrinol. Metab. 84:3036-3040(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPOC1 VAL-616, CHARACTERIZATION OF VARIANT HYPOC1 VAL-616.
  25. "A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations."
    Cole D.E.C., Peltekova V.D., Rubin L.A., Hawker G.A., Vieth R., Liew C.C., Hwang D.M., Evrovski J., Hendy G.N.
    Lancet 353:112-115(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-986, ASSOCIATION WITH SERUM LEVEL OF CALCIUM.
  26. "Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor."
    Carling T., Szabo E., Bai M., Ridefelt P., Westin G., Gustavsson P., Trivedi S., Hellman P., Brown E.M., Dahl N., Rastad J.
    J. Clin. Endocrinol. Metab. 85:2042-2047(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPERCALCIURIC HYPERCALCEMIA LEU-881, CHARACTERIZATION OF VARIANT HYPERCALCIURIC HYPERCALCEMIA LEU-881.
  27. "A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia."
    Nakayama T., Minato M., Nakagawa M., Soma M., Tobe H., Aoi N., Kosuge K., Sato M., Ozawa Y., Kanmatsuse K., Kokubun S.
    Endocrine 15:277-282(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHC1 GLU-557.
  28. "Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene."
    Cole D.E.C., Vieth R., Trang H.M., Wong B.Y.-L., Hendy G.N., Rubin L.A.
    Mol. Genet. Metab. 72:168-174(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-986, ASSOCIATION WITH SERUM LEVEL OF CALCIUM, PREDISPOSING FACTOR IN DISORDERS OF BONE AND MINERAL METABOLISM.
  29. "A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor."
    Nagase T., Murakami T., Tsukada T., Kitamura R., Chikatsu N., Takeo H., Takata N., Yasuda H., Fukumoto S., Tanaka Y., Nagata N., Yamaguchi K., Akatsu T., Yamamoto M.
    J. Clin. Endocrinol. Metab. 87:2681-2687(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPOC1 PHE-820, CHARACTERIZATION OF VARIANT HYPOC1 PHE-820, VARIANT GLY-990.
  30. "Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene."
    Sato K., Hasegawa Y., Nakae J., Nanao K., Takahashi I., Tajima T., Shinohara N., Fujieda K.
    J. Clin. Endocrinol. Metab. 87:3068-3073(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HYPOC1 PRO-125 AND GLU-843, CHARACTERIZATION OF VARIANTS HYPOC1 PRO-125 AND GLU-843.
  31. "Association between activating mutations of calcium-sensing receptor and Bartter's syndrome."
    Watanabe S., Fukumoto S., Chang H., Takeuchi Y., Hasegawa Y., Okazaki R., Chikatsu N., Fujita T.
    Lancet 360:692-694(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HYPOC1 TRP-131 AND GLU-843.
  32. "Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor."
    Tan Y.M., Cardinal J., Franks A.H., Mun H.-C., Lewis N., Harris L.B., Prins J.B., Conigrave A.D.
    J. Clin. Endocrinol. Metab. 88:605-610(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPOC1 LYS-604, CHARACTERIZATION OF VARIANT HYPOC1 LYS-604.
  33. "Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene."
    Hendy G.N., Minutti C., Canaff L., Pidasheva S., Yang B., Nouhi Z., Zimmerman D., Wei C., Cole D.E.C.
    J. Clin. Endocrinol. Metab. 88:3674-3681(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPOC1 LEU-788, CHARACTERIZATION OF VARIANT HYPOC1 LEU-788.
  34. "Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor."
    Scillitani A., Guarnieri V., De Geronimo S., Muscarella L.A., Battista C., D'Agruma L., Bertoldo F., Florio C., Minisola S., Hendy G.N., Cole D.E.C.
    J. Clin. Endocrinol. Metab. 89:5634-5638(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS SER-986; GLY-990 AND GLU-1011, ASSOCIATION WITH SERUM LEVEL OF CALCIUM.
  35. "Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor."
    Miyashiro K., Kunii I., Manna T.D., de Menezes Filho H.C., Damiani D., Setian N., Hauache O.M.
    J. Clin. Endocrinol. Metab. 89:5936-5941(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHC1 PRO-13, CHARACTERIZATION OF VARIANT HHC1 PRO-13.
  36. "Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications."
    Warner J., Epstein M., Sweet A., Singh D., Burgess J., Stranks S., Hill P., Perry-Keene D., Learoyd D., Robinson B., Birdsey P., Mackenzie E., Teh B.T., Prins J.B., Cardinal J.
    J. Med. Genet. 41:155-160(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-100; LYS-336 DEL; PRO-650; MET-689; SER-986; GLY-990 AND GLU-1011, INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM.
  37. "A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia."
    Uckun-Kitapci A., Underwood L.E., Zhang J., Moats-Staats B.
    Am. J. Med. Genet. A 132:125-129(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPOC1 LYS-767, VARIANT GLY-990.
  38. "Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia."
    Pidasheva S., Canaff L., Simonds W.F., Marx S.J., Hendy G.N.
    Hum. Mol. Genet. 14:1679-1690(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHC1 SER-11 AND PRO-13, VARIANT ALA-14, CHARACTERIZATION OF VARIANTS HHC1 SER-11 AND PRO-13, CHARACTERIZATION OF VARIANT ALA-14.
  39. "Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism."
    Wystrychowski A., Pidasheva S., Canaff L., Chudek J., Kokot F., Wiecek A., Hendy G.N.
    J. Clin. Endocrinol. Metab. 90:864-870(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHC1 GLN-227, CHARACTERIZATION OF VARIANT NSHPT LEU-227, CHARACTERIZATION OF VARIANT HHC1 GLN-227.
  40. "Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor."
    Leech C., Lohse P., Stanojevic V., Lechner A., Goeke B., Spitzweg C.
    Biochem. Biophys. Res. Commun. 342:996-1002(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHC1 GLN-465, CHARACTERIZATION OF VARIANT HHC1 GLN-465, VARIANT SER-986.
  41. "A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone."
    Mittelman S.D., Hendy G.N., Fefferman R.A., Canaff L., Mosesova I., Cole D.E., Burkett L., Geffner M.E.
    J. Clin. Endocrinol. Metab. 91:2474-2479(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HYPOC1 GLN-727, CHARACTERIZATION OF VARIANT HYPOC1 GLN-727.
  42. "Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status."
    Zajickova K., Vrbikova J., Canaff L., Pawelek P.D., Goltzman D., Hendy G.N.
    J. Clin. Endocrinol. Metab. 92:2616-2623(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHC1 CYS-180, CHARACTERIZATION OF VARIANT HHC1 CYS-180.
  43. "Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population."
    Nissen P.H., Christensen S.E., Heickendorff L., Brixen K., Mosekilde L.
    J. Clin. Endocrinol. Metab. 92:4373-4379(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HHC1 ARG-21; ASN-171; GLN-221; THR-225; PHE-271; ARG-397; ARG-509; ARG-553; VAL-555; TYR-562; PHE-582; TYR-582; ASP-623; ARG-670; PHE-728; ARG-742 AND TRP-886, VARIANTS LYS-250; SER-986; GLY-990 AND GLU-1011.
  44. "An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene."
    Kapoor A., Satishchandra P., Ratnapriya R., Reddy R., Kadandale J., Shankar S.K., Anand A.
    Ann. Neurol. 64:158-167(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EIG8 ALA-354; VAL-686; GLN-898; VAL-988 AND GLY-988, VARIANTS SER-986 AND GLY-990, TISSUE SPECIFICITY.
  45. "A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia."
    Hannan F.M., Nesbit M.A., Christie P.T., Lissens W., Van der Schueren B., Bex M., Bouillon R., Thakker R.V.
    Clin. Endocrinol. (Oxf.) 73:715-722(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT THR-339, CHARACTERIZATION OF VARIANT THR-339, INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM.
  46. "Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine."
    Aparicio Lopez C., Anton-Martin P., Gil-Fournier B., Ramiro-Leon S., Perez-Nanclares G., Perez de Nanclares G., Martinez Menendez B., Castano L.
    Eur. J. Pediatr. 171:147-150(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HHC1 MET-697.

Entry informationi

Entry nameiCASR_HUMAN
AccessioniPrimary (citable) accession number: P41180
Secondary accession number(s): Q13912
, Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: November 1, 1995
Last modified: October 29, 2014
This is version 160 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3