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|---|---|
| Accession Number: | P41180 |
| Protein Name: | Extracellular calcium-sensing receptor |
| Length: | 1078 |
| Molecular Weight: | 120674.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 7 |
| Location1 / Topology2 / Orientation3: | Cell membrane1 / Multi-pass membrane protein2 |
| Substrate | |
Cross database links:
| DIP: | DIP-5975N DIP-5975N |
|---|---|
| Entrez Gene ID: | 846 |
| Pfam: | PF00003 PF01094 PF07562 |
| KEGG: | hsa:846 hsa:846 |
Gene Ontology
GO:0005887
C:integral to plasma membrane
GO:0004930
F:G-protein coupled receptor activity
GO:0004435
F:phosphatidylinositol phospholipase C activity
GO:0005515
F:protein binding
GO:0009653
P:anatomical structure morphogenesis
GO:0070509
P:calcium ion import
GO:0019722
P:calcium-mediated signaling
GO:0006874
P:cellular calcium ion homeostasis
GO:0007635
P:chemosensory behavior
GO:0005513
P:detection of calcium ion
GO:0001503
P:ossification
| |
References (86)[1] “Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs.” Garrett J.E.et.al. 7759551 [2] “Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney.” Aida K.et.al. 7677761 [3] “Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion.” Freichel M.et.al. 8756555 [4] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [5] “Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.” Aida K.et.al. 7673400 [6] “Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor.” Bikle D.D.et.al. 8613532 [7] “Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin.” Huang Y.et.al. 16513638 [8] “Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.” Pollak M.R.et.al. 7916660 [9] “Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.” Pollak M.R.et.al. 7874174 [10] “Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.” Chou Y.-H.W.et.al. 7726161 [11] “Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.” Pearce S.H.S.et.al. 8675635 [12] “The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.” Lovlie R.et.al. 8698326 [13] “Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.” Baron J.et.al. 8733126 [14] “A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.” Pearce S.H.S.et.al. 8813042 [15] “A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.” Ward B.K.et.al. 9298824 [16] “Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.” De Luca F.et.al. 9253358 [17] “Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.” Kobayashi M.et.al. 9253359 [18] “Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.” Watanabe T.et.al. 9661634 [19] “An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.” Chikatsu N.et.al. 10468915 [20] “A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.” Okazaki R.et.al. 9920108 [21] “Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.” Stock J.L.et.al. 10487661 [22] “A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.” Cole D.E.C.et.al. 10023897 [23] “Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.” Carling T.et.al. 10843194 [24] “A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.” Nakayama T.et.al. 11762699 [25] “Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene.” Cole D.E.C.et.al. 11161843 [26] “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.et.al. 12050233 [27] “Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.” Sato K.et.al. 12107202 [28] “Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.” Watanabe S.et.al. 12241879 [29] “Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.” Tan Y.M.et.al. 12574188 [30] “Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.” Hendy G.N.et.al. 12915654 [31] “Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.” Scillitani A.et.al. 15531522 [32] “Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.” Miyashiro K.et.al. 15579740 [33] “Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.” Warner J.et.al. 14985373 [34] “A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.” Uckun-Kitapci A.et.al. 15551332 [35] “Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.” Pidasheva S.et.al. 15879434 [36] “Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.” Wystrychowski A.et.al. 15572418 [37] “Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor.” Leech C.et.al. 16598859 [38] “A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.” Mittelman S.D.et.al. 16608894 [39] “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.et.al. 17473068 [40] “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.et.al. 17698911 [41] “An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.” Kapoor A.et.al. 18756473 [42] “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.et.al. 20846291 [43] “Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.” Aparicio Lopez C.et.al. 21643651 [44] “Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs.” Garrett J.E.et.al. 7759551 [45] “Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney.” Aida K.et.al. 7677761 [46] “Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion.” Freichel M.et.al. 8756555 [47] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [48] “Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.” Aida K.et.al. 7673400 [49] “Changes in calcium responsiveness and handling during keratinocyte differentiation. Potential role of the calcium receptor.” Bikle D.D.et.al. 8613532 [50] “Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin.” Huang Y.et.al. 16513638 [51] “Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.” Pollak M.R.et.al. 7916660 [52] “Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.” Pollak M.R.et.al. 7874174 [53] “Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia.” Chou Y.-H.W.et.al. 7726161 [54] “Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.” Pearce S.H.S.et.al. 8675635 [55] “The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.” Lovlie R.et.al. 8698326 [56] “Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.” Baron J.et.al. 8733126 [57] “A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.” Pearce S.H.S.et.al. 8813042 [58] “A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia.” Ward B.K.et.al. 9298824 [59] “Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.” De Luca F.et.al. 9253358 [60] “Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism.” Kobayashi M.et.al. 9253359 [61] “Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.” Watanabe T.et.al. 9661634 [62] “An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.” Chikatsu N.et.al. 10468915 [63] “A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.” Okazaki R.et.al. 9920108 [64] “Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.” Stock J.L.et.al. 10487661 [65] “A986S polymorphism of the calcium-sensing receptor and circulating calcium concentrations.” Cole D.E.C.et.al. 10023897 [66] “Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.” Carling T.et.al. 10843194 [67] “A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.” Nakayama T.et.al. 11762699 [68] “Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene.” Cole D.E.C.et.al. 11161843 [69] “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.et.al. 12050233 [70] “Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.” Sato K.et.al. 12107202 [71] “Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.” Watanabe S.et.al. 12241879 [72] “Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.” Tan Y.M.et.al. 12574188 [73] “Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.” Hendy G.N.et.al. 12915654 [74] “Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor.” Scillitani A.et.al. 15531522 [75] “Severe hypercalcemia in a 9-year-old Brazilian girl due to a novel inactivating mutation of the calcium-sensing receptor.” Miyashiro K.et.al. 15579740 [76] “Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications.” Warner J.et.al. 14985373 [77] “A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia.” Uckun-Kitapci A.et.al. 15551332 [78] “Impaired cotranslational processing of the calcium-sensing receptor due to signal peptide missense mutations in familial hypocalciuric hypercalcemia.” Pidasheva S.et.al. 15879434 [79] “Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.” Wystrychowski A.et.al. 15572418 [80] “Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor.” Leech C.et.al. 16598859 [81] “A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.” Mittelman S.D.et.al. 16608894 [82] “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.et.al. 17473068 [83] “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.et.al. 17698911 [84] “An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.” Kapoor A.et.al. 18756473 [85] “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.et.al. 20846291 [86] “Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.” Aparicio Lopez C.et.al. 21643651
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| Structure: | |
External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MAFYSCCWVL LALTWHTSAY GPDQRAQKKG DIILGGLFPI HFGVAAKDQD LKSRPESVEC 61: IRYNFRGFRW LQAMIFAIEE INSSPALLPN LTLGYRIFDT CNTVSKALEA TLSFVAQNKI 121: DSLNLDEFCN CSEHIPSTIA VVGATGSGVS TAVANLLGLF YIPQVSYASS SRLLSNKNQF 181: KSFLRTIPND EHQATAMADI IEYFRWNWVG TIAADDDYGR PGIEKFREEA EERDICIDFS 241: ELISQYSDEE EIQHVVEVIQ NSTAKVIVVF SSGPDLEPLI KEIVRRNITG KIWLASEAWA 301: SSSLIAMPQY FHVVGGTIGF ALKAGQIPGF REFLKKVHPR KSVHNGFAKE FWEETFNCHL 361: QEGAKGPLPV DTFLRGHEES GDRFSNSSTA FRPLCTGDEN ISSVETPYID YTHLRISYNV 421: YLAVYSIAHA LQDIYTCLPG RGLFTNGSCA DIKKVEAWQV LKHLRHLNFT NNMGEQVTFD 481: ECGDLVGNYS IINWHLSPED GSIVFKEVGY YNVYAKKGER LFINEEKILW SGFSREVPFS 541: NCSRDCLAGT RKGIIEGEPT CCFECVECPD GEYSDETDAS ACNKCPDDFW SNENHTSCIA 601: KEIEFLSWTE PFGIALTLFA VLGIFLTAFV LGVFIKFRNT PIVKATNREL SYLLLFSLLC 661: CFSSSLFFIG EPQDWTCRLR QPAFGISFVL CISCILVKTN RVLLVFEAKI PTSFHRKWWG 721: LNLQFLLVFL CTFMQIVICV IWLYTAPPSS YRNQELEDEI IFITCHEGSL MALGFLIGYT 781: CLLAAICFFF AFKSRKLPEN FNEAKFITFS MLIFFIVWIS FIPAYASTYG KFVSAVEVIA 841: ILAASFGLLA CIFFNKIYII LFKPSRNTIE EVRCSTAAHA FKVAARATLR RSNVSRKRSS 901: SLGGSTGSTP SSSISSKSNS EDPFPQPERQ KQQQPLALTQ QEQQQQPLTL PQQQRSQQQP 961: RCKQKVIFGS GTVTFSLSFD EPQKNAMAHR NSTHQNSLEA QKSSDTLTRH QPLLPLQCGE 1021: TDLDLTVQET GLQGPVGGDQ RPEVEDPEEL SPALVVSSSQ SFVISGGGST VTENVVNS