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Gene and Protein Information  |
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| Species | TM | P Loops | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
| Human | 24 | 4 | 1873 | 1q32.1 | CACNA1S | calcium voltage-gated channel subunit alpha1 S | 14 |
| Mouse | 24 | 4 | 1880 | 1 59.55 cM | Cacna1s | calcium channel, voltage-dependent, L type, alpha 1S subunit | 8 |
| Rat | 24 | 4 | 1850 | 13 | Cacna1s | calcium voltage-gated channel subunit alpha1 S | 10 |
| Previous and Unofficial Names |
| alpha-1S skeletal muscle L-type Ca2+ channel | CACNL1A3 | HOKPP | ROB1 | voltage-dependent L-type calcium channel subunit alpha-1S | voltage-gated calcium channel subunit alpha Cav1.1 | DHPR alpha1s | fmd | mdg | TTPP1 | CCHL1A3 | HOKPP1 | alpha-1 polypeptide, isoform 3, skeletal muscle | hypoPP | skeletal muscle dihydropyridine receptor | calcium channel |
| Database Links |
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| Alphafold | Q13698 (Hs), Q02789 (Mm), Q02485 (Rn) |
| ChEMBL Target | CHEMBL3805 (Hs), CHEMBL4108 (Rn) |
| DrugBank Target | Q13698 (Hs) |
| Ensembl Gene | ENSG00000081248 (Hs), ENSMUSG00000026407 (Mm), ENSRNOG00000046231 (Rn) |
| Entrez Gene | 779 (Hs), 12292 (Mm), 682930 (Rn) |
| Human Protein Atlas | ENSG00000081248 (Hs) |
| KEGG Gene | hsa:779 (Hs), mmu:12292 (Mm), rno:682930 (Rn) |
| OMIM | 114208 (Hs) |
| Orphanet | ORPHA119157 (Hs) |
| Pharos | Q13698 (Hs) |
| RefSeq Nucleotide | NM_000069 (Hs), NM_014193 (Mm), NM_001081023 (Mm), NM_053873 (Rn) |
| RefSeq Protein | NP_000060 (Hs), NP_001074492 (Mm), NP_055008 (Mm), NP_446325 (Rn) |
| UniProtKB | Q13698 (Hs), Q02789 (Mm), Q02485 (Rn) |
| Wikipedia | CACNA1S (Hs) |
| Selected 3D Structures |
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| Associated Proteins |
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| Functional Characteristics |
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| L-type calcium current: High voltage-activated, very slow voltage dependent inactivation | |
| Ion Selectivity and Conductance |
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| Voltage Dependence |
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Download all structure-activity data for this target as a CSV file 
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| Key to terms and symbols | View all chemical structures | Click column headers to sort | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Activator Comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BAYK 8644 stimulates currents at μM concentrations but, unlike inhibitory dihydropyridines, does not block charge movement [22,32,40]. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gating inhibitors
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| Key to terms and symbols | View all chemical structures | Click column headers to sort | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| View species-specific gating inhibitor tables | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Channel Blockers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Key to terms and symbols | View all chemical structures | Click column headers to sort | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| View species-specific channel blocker tables | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Channel Blocker Comments | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amlodopine, isradipine, nifedipine, nitrendipine, and nimodipine are examples of dihydropyridine calcium channel antagonists. Verapamil is a phenylalkylamine calcium channel blocker, and diltiazem is a benzothiazepine calcium channel blocker. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Tissue Distribution Comments | ||||||||
| On the protein level Cav1.1 channel expression was demonstrated only in skeletal muscle and mRNA expression has been described by one research group in rat and human brain [48], but these findings have not been reproduced by other groups so far [45]. | ||||||||
| Functional Assays
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| Physiological Functions
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| Physiological Functions Comments | ||||||||
| ECC is absent from dysgenic skeletal muscle cells lacking dihydropyridine receptors (Cav1.1 α1 subunits) and is restored by transfection of these cells with Cav1.1 α1 subunits [44,49]; fast voltage sensor movement of channel triggers opening of ryanodine receptor-mediated calcium release; channel pore opens only slowly and role of calcium entry for physiological function is not clear. | ||||||||
| Physiological Consequences of Altering Gene Expression
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| Phenotypes, Alleles and Disease Models
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| Clinically-Relevant Mutations and Pathophysiology
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| For details of the mechanism of action of CACNA1S mutations see references [6,30,46]. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Biologically Significant Variants
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3. Beam KG, Knudson CM. (1988) Effect of postnatal development on calcium currents and slow charge movement in mammalian skeletal muscle. J Gen Physiol, 91 (6): 799-815. [PMID:2458430]
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23. Goll A, Ferry DR, Striessnig J, Schober M, Glossmann H. (1984) (-)-[3H]Desmethoxyverapamil, a novel Ca2+ channel probe. Binding characteristics and target size analysis of its receptor in skeletal muscle. FEBS Lett, 176 (2): 371-7. [PMID:6092142]
24. Hagiwara M, Adachi-Akahane S, Nagao T. (1997) High-affinity binding of DTZ323, a novel derivative of diltiazem, to rabbit skeletal muscle L-type Ca++ channels. J Pharmacol Exp Ther, 281 (1): 173-9. [PMID:9103495]
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26. Hulme JT, Ahn M, Hauschka SD, Scheuer T, Catterall WA. (2002) A novel leucine zipper targets AKAP15 and cyclic AMP-dependent protein kinase to the C terminus of the skeletal muscle Ca2+ channel and modulates its function. J Biol Chem, 277 (6): 4079-87. [PMID:11733497]
27. Jay SD, Ellis SB, McCue AF, Williams ME, Vedvick TS, Harpold MM, Campbell KP. (1990) Primary structure of the gamma subunit of the DHP-sensitive calcium channel from skeletal muscle. Science, 248 (4954): 490-2. [PMID:2158672]
28. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J et al.. (1994) A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet, 3 (8): 1415-9. [PMID:7987325]
29. Jurkat-Rott K, Lerche H, Lehmann-Horn F. (2002) Skeletal muscle channelopathies. J Neurol, 249 (11): 1493-502. [PMID:12420087]
30. Jurkat-Rott K, Weber MA, Fauler M, Guo XH, Holzherr BD, Paczulla A, Nordsborg N, Joechle W, Lehmann-Horn F. (2009) K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. Proc Natl Acad Sci USA, 106 (10): 4036-41. [PMID:19225109]
31. Ke T, Gomez CR, Mateus HE, Castano JA, Wang QK. (2009) Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family. J Hum Genet, 54 (11): 660-4. [PMID:19779499]
32. Lamb GD, Walsh T. (1987) Calcium currents, charge movement and dihydropyridine binding in fast- and slow-twitch muscles of rat and rabbit. J Physiol (Lond.), 393: 595-617. [PMID:2451745]
33. Li FF, Li QQ, Tan ZX, Zhang SY, Liu J, Zhao EY, Yu GC, Zhou J, Zhang LM, Liu SL. (2012) A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance. J Mol Neurosci, 46 (2): 378-83. [PMID:21845430]
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50. Tang ZZ, Yarotskyy V, Wei L, Sobczak K, Nakamori M, Eichinger K, Moxley RT, Dirksen RT, Thornton CA. (2012) Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. Hum Mol Genet, 21 (6): 1312-24. [PMID:22140091]
51. Toppin PJ, Chandy TT, Ghanekar A, Kraeva N, Beattie WS, Riazi S. (2010) A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene. Can J Anaesth, 57 (7): 689-93. [PMID:20431982]
52. Tuluc P, Molenda N, Schlick B, Obermair GJ, Flucher BE, Jurkat-Rott K. (2009) A CaV1.1 Ca2+ channel splice variant with high conductance and voltage-sensitivity alters EC coupling in developing skeletal muscle. Biophys J, 96 (1): 35-44. [PMID:19134469]
53. Walsh KB, Bryant SH, Schwartz A. (1986) Effect of calcium antagonist drugs on calcium currents in mammalian skeletal muscle fibers. J Pharmacol Exp Ther, 236 (2): 403-7. [PMID:2418195]
54. Wu F, Mi W, Hernández-Ochoa EO, Burns DK, Fu Y, Gray HF, Struyk AF, Schneider MF, Cannon SC. (2012) A calcium channel mutant mouse model of hypokalemic periodic paralysis. J Clin Invest, 122 (12): 4580-91. [PMID:23187123]
55. Wu J, Yan Z, Li Z, Qian X, Lu S, Dong M, Zhou Q, Yan N. (2016) Structure of the voltage-gated calcium channel Ca(v)1.1 at 3.6 Å resolution. Nature, 537 (7619): 191-196. [PMID:27580036]
56. Zhao Y, Huang G, Wu J, Wu Q, Gao S, Yan Z, Lei J, Yan N. (2019) Molecular Basis for Ligand Modulation of a Mammalian Voltage-Gated Ca2+ Channel. Cell, 177 (6): 1495-1506.e12. [PMID:31150622]
