P41180 (CASR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Extracellular calcium-sensing receptor
Short name=CaSR

Alternative name(s):
Parathyroid cell calcium-sensing receptor 1
Short name=PCaR1

Gene names

Name:	CASR
Synonyms:	GPRC2A, PCAR1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1078 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Subunit structure	Interacts with VCP and RNF19A. Interacts with ARRB1 By similarity. Ref.9
Subcellular location	Cell membrane; Multi-pass membrane protein Ref.10.
Tissue specificity	Expressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta. Ref.44
Post-translational modification	N-glycosylated. Ref.9 Ref.10 Ubiquitinated by RNF19A; which induces proteasomal degradation. Ref.9
Involvement in disease	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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.11 Ref.13 Ref.18 Ref.27 Ref.35 Ref.38 Ref.39 Ref.40 Ref.42 Ref.43 Ref.46 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Ref.20 Ref.39 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.16 Ref.17 Ref.19 Ref.21 Ref.23 Ref.24 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.37 Ref.41 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. Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.44 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.
Sequence similarities	Belongs to the G-protein coupled receptor 3 family.

Ontologies

Keywords
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epilepsy
Domain	Signal Transmembrane Transmembrane helix
Molecular function	G-protein coupled receptor Receptor Transducer
PTM	Glycoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G-protein coupled receptor signaling pathway Traceable author statement Ref.2. Source: ProtInc anatomical structure morphogenesis Traceable author statement Ref.11. Source: ProtInc calcium ion import Inferred from direct assay Ref.45. Source: UniProtKB cellular calcium ion homeostasis Traceable author statement Ref.12. Source: ProtInc chemosensory behavior Traceable author statement Ref.2. Source: ProtInc detection of calcium ion Traceable author statement Ref.2. Source: ProtInc metabolic process Traceable author statement Ref.12. Source: GOC ossification Traceable author statement Ref.12. Source: ProtInc
Cellular_component	integral component of plasma membrane Traceable author statement Ref.2. Source: ProtInc plasma membrane Traceable author statement. Source: Reactome
Molecular_function	G-protein coupled receptor activity Traceable author statement Ref.2. Source: ProtInc phosphatidylinositol phospholipase C activity Traceable author statement Ref.12. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
TMED2	Q15363	3	EBI-4400127,EBI-998485

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P41180-1)

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.

Isoform 2 (identifier: P41180-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 19	19	Potential
	Chain	20 – 1078	1059	Extracellular calcium-sensing receptor		PRO_0000012946
Regions
	Topological domain	20 – 612	593	Extracellular Potential
	Transmembrane	613 – 635	23	Helical; Name=1; Potential
	Topological domain	636 – 649	14	Cytoplasmic Potential
	Transmembrane	650 – 670	21	Helical; Name=2; Potential
	Topological domain	671 – 681	11	Extracellular Potential
	Transmembrane	682 – 700	19	Helical; Name=3; Potential
	Topological domain	701 – 724	24	Cytoplasmic Potential
	Transmembrane	725 – 745	21	Helical; Name=4; Potential
	Topological domain	746 – 769	24	Extracellular Potential
	Transmembrane	770 – 792	23	Helical; Name=5; Potential
	Topological domain	793 – 805	13	Cytoplasmic Potential
	Transmembrane	806 – 828	23	Helical; Name=6; Potential
	Topological domain	829 – 836	8	Extracellular Potential
	Transmembrane	837 – 862	26	Helical; Name=7; Potential
	Topological domain	863 – 1078	216	Cytoplasmic Potential
	Region	880 – 900	21	Interaction with RNF19A
Amino acid modifications
	Glycosylation	90	1	N-linked (GlcNAc...) Potential
	Glycosylation	130	1	N-linked (GlcNAc...) Potential
	Glycosylation	261	1	N-linked (GlcNAc...) Potential
	Glycosylation	287	1	N-linked (GlcNAc...) Potential
	Glycosylation	386	1	N-linked (GlcNAc...) Potential
	Glycosylation	400	1	N-linked (GlcNAc...) Potential
	Glycosylation	446	1	N-linked (GlcNAc...) Potential
	Glycosylation	468	1	N-linked (GlcNAc...) Potential
	Glycosylation	488	1	N-linked (GlcNAc...) Potential
	Glycosylation	541	1	N-linked (GlcNAc...) Potential
	Glycosylation	594	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	536	1	E → EPLTFVLSVLQ in isoform 2.		VSP_002035
	Natural variant	11	1	L → 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. Ref.38		VAR_058046
	Natural variant	13	1	L → 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. Ref.35 Ref.38		VAR_058047
	Natural variant	14	1	T → 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. Ref.38		VAR_058048
	Natural variant	21	1	G → R in HHC1. Ref.43		VAR_058049
	Natural variant	27	1	Q → R Found in a patient with primary hyperparathyroidism detected at adulthood; mutant CASR is activated by a higher calcium concentrations than the wild-type. Ref.22		VAR_065198
	Natural variant	39	1	P → A in HHC1. Ref.7		VAR_003585
	Natural variant	47	1	K → N in HYPOC1; the EC(50) of the mutant is significantly lower than that of wild-type. Ref.23		VAR_058050
	Natural variant	62	1	R → M in HHC1 and NSHPT; mild. Ref.13		VAR_003586
	Natural variant	66	1	R → C in HHC1. Ref.13		VAR_003587
	Natural variant	100	1	T → I Found in a patient with primary hyperparathyroidism detected at adulthood. Ref.36		VAR_065199
	Natural variant	116	1	A → T in HYPOC1. Ref.16		VAR_003588
	Natural variant	118	1	N → K in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. Ref.17 Ref.19		VAR_058051
	Natural variant	125	1	L → P in HYPOC1; shifts the concentration-response curve of calcium ions to the left. Ref.30		VAR_058052
	Natural variant	127	1	E → A in HYPOC1. Ref.12		VAR_003589
	Natural variant	128	1	F → 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. Ref.17		VAR_058053
	Natural variant	131	1	C → W in HYPOC1; associated with clinical features of Bartter syndrome. Ref.31		VAR_058054
	Natural variant	138	1	T → M in HHC1. Ref.13		VAR_003590
	Natural variant	143	1	G → E in HHC1. Ref.13		VAR_003591
	Natural variant	151	1	T → 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. Ref.15 Ref.17		VAR_058055
	Natural variant	171	1	S → N in HHC1. Ref.43		VAR_058056
	Natural variant	174	1	L → R in HHC1. Ref.18		VAR_003592
	Natural variant	180	1	F → 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. Ref.42		VAR_058057
	Natural variant	185	1	R → Q in HHC1. Ref.11		VAR_003593
	Natural variant	191	1	E → 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. Ref.17		VAR_058058
	Natural variant	221	1	P → Q in HHC1. Ref.43		VAR_058059
	Natural variant	225	1	K → T in HHC1. Ref.43		VAR_058060
	Natural variant	227	1	R → 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. Ref.14 Ref.39 Corresponds to variant rs28936684 [ dbSNP | Ensembl ].		VAR_003594
	Natural variant	227	1	R → 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. Ref.13 Ref.39		VAR_003595
	Natural variant	250	1	E → K. Ref.43 Corresponds to variant rs62269092 [ dbSNP | Ensembl ].		VAR_058061
	Natural variant	271	1	S → F in HHC1. Ref.43		VAR_058062
	Natural variant	297	1	E → K in HHC1 and NSHPT. Ref.11		VAR_003596
	Natural variant	336	1	Missing Found in a patient with primary hyperparathyroidism detected at adulthood. Ref.36		VAR_065200
	Natural variant	339	1	P → 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. Ref.45		VAR_065201
	Natural variant	354	1	E → A in EIG8; patients present juvenile myoclonus epilepsy. Ref.44		VAR_060206
	Natural variant	397	1	G → R in HHC1. Ref.43		VAR_058063
	Natural variant	465	1	R → 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. Ref.40		VAR_058064
	Natural variant	509	1	G → R in HHC1. Ref.43 Corresponds to variant rs193922423 [ dbSNP | Ensembl ].		VAR_058065
	Natural variant	553	1	G → R in HHC1. Ref.43		VAR_058066
	Natural variant	555	1	I → V in HHC1. Ref.43		VAR_058067
	Natural variant	557	1	G → E in HHC1. Ref.27		VAR_012649
	Natural variant	562	1	C → Y in HHC1. Ref.43		VAR_058068
	Natural variant	582	1	C → F in HHC1. Ref.43		VAR_058069
	Natural variant	582	1	C → Y in NSHPT. Ref.14 Ref.43		VAR_003597
	Natural variant	604	1	E → 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. Ref.32		VAR_058070
	Natural variant	612	1	F → S in HYPOC1. Ref.17		VAR_058071
	Natural variant	616	1	L → V in HYPOC1; does not affect the total accumulation of inositol phosphates as a function of extracellular calcium concentrations in transfected cells. Ref.24		VAR_015414
	Natural variant	623	1	G → D in HHC1. Ref.43		VAR_058072
	Natural variant	650	1	L → P Found in a patient with primary hyperparathyroidism detected at adulthood. Ref.36		VAR_065202
	Natural variant	670	1	G → E in NSHPT. Ref.20		VAR_058073
	Natural variant	670	1	G → R in HHC1. Ref.43		VAR_058074
	Natural variant	681	1	Q → H in HYPOC1. Ref.16		VAR_003598
	Natural variant	686	1	I → V in EIG8; patients present juvenile myoclonus epilepsy. Ref.44		VAR_060207
	Natural variant	689	1	V → M Found in a patient with primary hyperparathyroidism detected at adulthood. Ref.36		VAR_065203
	Natural variant	697	1	V → M in HHC1. Ref.46		VAR_065494
	Natural variant	727	1	L → 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. Ref.41		VAR_058075
	Natural variant	728	1	V → F in HHC1. Ref.43		VAR_058076
	Natural variant	742	1	W → R in HHC1. Ref.43		VAR_058077
	Natural variant	767	1	E → K in HYPOC1. Ref.37		VAR_021019
	Natural variant	773	1	L → R in HYPOC1; the mutation shifts the concentration-response curve to the left and increases maximal activity. Ref.19		VAR_058078
	Natural variant	788	1	F → 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. Ref.21		VAR_058079
	Natural variant	788	1	F → 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. Ref.33		VAR_058080
	Natural variant	795	1	R → W in HHC1. Ref.11		VAR_003599
	Natural variant	806	1	F → S in HYPOC1; does not produce a significant activating effect; decreased cell surface receptor expression. Ref.16 Ref.19		VAR_003600
	Natural variant	820	1	S → 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. Ref.29		VAR_058081
	Natural variant	843	1	A → E in HYPOC1; also in HYPOC1 associated with clinical features of Bartter syndrome; shifts the concentration-response curve of calcium ions to the left. Ref.30 Ref.31		VAR_058082
	Natural variant	851	1	C → S. Ref.16		VAR_003601
	Natural variant	881	1	F → 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. Ref.26		VAR_058083
	Natural variant	886	1	R → W in HHC1. Ref.43		VAR_058084
	Natural variant	898	1	R → Q in EIG8. Ref.44		VAR_060208
	Natural variant	951	1	P → T. Corresponds to variant rs4987051 [ dbSNP | Ensembl ].		VAR_020220
	Natural variant	986	1	A → S Associated with high serum level of calcium; is also a potential predisposing factor in disorders of bone and mineral metabolism. Ref.5 Ref.25 Ref.28 Ref.34 Ref.36 Ref.40 Ref.43 Ref.44 Corresponds to variant rs1801725 [ dbSNP | Ensembl ].		VAR_014450
	Natural variant	988	1	A → G in EIG8; patients present juvenile myoclonus epilepsy. Ref.44		VAR_060209
	Natural variant	988	1	A → V in EIG8; patients present juvenile myoclonus epilepsy. Ref.44		VAR_060210
	Natural variant	990	1	R → G Associated with low serum level of calcium. Ref.2 Ref.5 Ref.29 Ref.34 Ref.36 Ref.37 Ref.43 Ref.44 Corresponds to variant rs1042636 [ dbSNP | Ensembl ].		VAR_020221
	Natural variant	1011	1	Q → E Associated with high serum level of calcium. Ref.5 Ref.34 Ref.36 Ref.43 Corresponds to variant rs1801726 [ dbSNP | Ensembl ].		VAR_014451
Experimental info
	Sequence conflict	857	1	I → T in BAA09453. Ref.3
	Sequence conflict	878	1	A → R in BAA09453. Ref.3
	Sequence conflict	926	1	Q → R in AAA86503. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1995. Version 2. Checksum: 620C57DB1A83E1DB	FASTA	1,078	120,674
	10 20 30 40 50 60 MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC 70 80 90 100 110 120 IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI 130 140 150 160 170 180 DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF 190 200 210 220 230 240 KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS 250 260 270 280 290 300 ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA 310 320 330 340 350 360 SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL 370 380 390 400 410 420 QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV 430 440 450 460 470 480 YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD 490 500 510 520 530 540 ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS 550 560 570 580 590 600 NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA 610 620 630 640 650 660 KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC 670 680 690 700 710 720 CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG 730 740 750 760 770 780 LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT 790 800 810 820 830 840 CLLAAICFFF AFKSRKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA 850 860 870 880 890 900 ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS 910 920 930 940 950 960 SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL PQQQRSQQQP 970 980 990 1000 1010 1020 RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH QPLLPLQCGE 1030 1040 1050 1060 1070 TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS
	Isoform 2 [UniParc]. Checksum: 0D916FB23151762A	FASTA	1,088	121,772
	10 20 30 40 50 60 MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC 70 80 90 100 110 120 IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI 130 140 150 160 170 180 DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF 190 200 210 220 230 240 KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS 250 260 270 280 290 300 ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA 310 320 330 340 350 360 SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL 370 380 390 400 410 420 QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV 430 440 450 460 470 480 YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD 490 500 510 520 530 540 ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREPLTF 550 560 570 580 590 600 VLSVLQVPFS NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW 610 620 630 640 650 660 SNENHTSCIA KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL 670 680 690 700 710 720 SYLLLFSLLC CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI 730 740 750 760 770 780 PTSFHRKWWG LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL 790 800 810 820 830 840 MALGFLIGYT CLLAAICFFF AFKSRKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG 850 860 870 880 890 900 KFVSAVEVIA ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR 910 920 930 940 950 960 RSNVSRKRSS SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL 970 980 990 1000 1010 1020 PQQQRSQQQP RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH 1030 1040 1050 1060 1070 1080 QPLLPLQCGE TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS

References

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[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.
+	Additional computationally mapped references.

Web resources

GeneReviews

SeattleSNPs

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
PIR	A56715. B56715.
RefSeq	NP_000379.2. NM_000388.3. NP_001171536.1. NM_001178065.1.
UniGene	Hs.435615.
3D structure databases
ProteinModelPortal	P41180.
SMR	P41180. Positions 24-603.
ModBase	Search...
MobiDB	Search...
Protein-protein interaction databases
BioGrid	107296. 10 interactions.
DIP	DIP-5975N.
IntAct	P41180. 1 interaction.
MINT	MINT-201342.
STRING	9606.ENSP00000296154.
Chemistry
BindingDB	P41180.
ChEMBL	CHEMBL1878.
DrugBank	DB01012. Cinacalcet.
GuidetoPHARMACOLOGY	54.
Protein family/group databases
TCDB	9.A.14.7.2. the g-protein-coupled receptor (gpcr) family.
GPCRDB	Search...
PTM databases
PhosphoSite	P41180.
Polymorphism databases
DMDM	1168781.
Proteomic databases
PaxDb	P41180.
PRIDE	P41180.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000296154; ENSP00000296154; ENSG00000036828. ENST00000490131; ENSP00000418685; ENSG00000036828.
GeneID	846.
KEGG	hsa:846.
UCSC	uc003eev.4. human. [P41180-1] uc003eew.4. human. [P41180-2]
Organism-specific databases
CTD	846.
GeneCards	GC03P121820.
H-InvDB	HIX0163457.
HGNC	HGNC:1514. CASR.
HPA	HPA039686.
MIM	145980. phenotype. 239200. phenotype. 601198. phenotype. 601199. gene+phenotype. 612899. phenotype.
neXtProt	NX_P41180.
Orphanet	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.
PharmGKB	PA26097.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG295200.
HOVERGEN	HBG052876.
KO	K04612.
OrthoDB	EOG7DZ8J8.
PhylomeDB	P41180.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	P41180.
Bgee	P41180.
CleanEx	HS_CASR.
Genevestigator	P41180.
Family and domain databases
InterPro	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]
Pfam	PF00003. 7tm_3. 1 hit. PF01094. ANF_receptor. 1 hit. PF07562. NCD3G. 1 hit. [Graphical view]
PRINTS	PR00248. GPCRMGR.
SUPFAM	SSF53822. SSF53822. 1 hit.
PROSITE	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]
ProtoNet	Search...
Other
GeneWiki	Calcium-sensing_receptor.
GenomeRNAi	846.
NextBio	3546.
PRO	P41180.
SOURCE	Search...

Entry information

Entry name

CASR_HUMAN

Accession

Primary (citable) accession number: P41180
Secondary accession number(s): Q13912 , Q16108, Q16109, Q16110, Q16379, Q2M1T0, Q4PJ19

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 1995
Last sequence update:	November 1, 1995
Last modified:	April 16, 2014
This is version 154 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.