T3DB: Voltage-dependent L-type calcium channel subunit alpha-1S

Name	Voltage-dependent L-type calcium channel subunit alpha-1S
Synonyms	CACH1 CACN1 CACNL1A3 Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle Voltage-gated calcium channel subunit alpha Cav1.1
Gene Name	CACNA1S
Organism	Human
Amino acid sequence	>lcl\|BSEQ0016764\|Voltage-dependent L-type calcium channel subunit alpha-1S MEPSSPQDEGLRKKQPKKPVPEILPRPPRALFCLTLENPLRKACISIVEWKPFETIILLT IFANCVALAVYLPMPEDDNNSLNLGLEKLEYFFLIVFSIEAAMKIIAYGFLFHQDAYLRS GWNVLDFTIVFLGVFTVILEQVNVIQSHTAPMSSKGAGLDVKALRAFRVLRPLRLVSGVP SLQVVLNSIFKAMLPLFHIALLVLFMVIIYAIIGLELFKGKMHKTCYFIGTDIVATVENE EPSPCARTGSGRRCTINGSECRGGWPGPNHGITHFDNFGFSMLTVYQCITMEGWTDVLYW VNDAIGNEWPWIYFVTLILLGSFFILNLVLGVLSGEFTKEREKAKSRGTFQKLREKQQLD EDLRGYMSWITQGEVMDVEDFREGKLSLDEGGSDTESLYEIAGLNKIIQFIRHWRQWNRI FRWKCHDIVKSKVFYWLVILIVALNTLSIASEHHNQPLWLTRLQDIANRVLLSLFTTEML MKMYGLGLRQYFMSIFNRFDCFVVCSGILEILLVESGAMTPLGISVLRCIRLLRIFKITK YWTSLSNLVASLLNSIRSIASLLLLLFLFIVIFALLGMQLFGGRYDFEDTEVRRSNFDNF PQALISVFQVLTGEDWTSMMYNGIMAYGGPSYPGMLVCIYFIILFVCGNYILLNVFLAIA VDNLAEAESLTSAQKAKAEEKKRRKMSKGLPDKSEEEKSTMAKKLEQKPKGEGIPTTAKL KIDEFESNVNEVKDPYPSADFPGDDEEDEPEIPLSPRPRPLAELQLKEKAVPIPEASSFF IFSPTNKIRVLCHRIVNATWFTNFILLFILLSSAALAAEDPIRADSMRNQILKHFDIGFT SVFTVEIVLKMTTYGAFLHKGSFCRNYFNMLDLLVVAVSLISMGLESSAISVVKILRVLR VLRPLRAINRAKGLKHVVQCMFVAISTIGNIVLVTTLLQFMFACIGVQLFKGKFFRCTDL SKMTEEECRGYYYVYKDGDPMQIELRHREWVHSDFHFDNVLSAMMSLFTVSTFEGWPQLL YKAIDSNAEDVGPIYNNRVEMAIFFIIYIILIAFFMMNIFVGFVIVTFQEQGETEYKNCE LDKNQRQCVQYALKARPLRCYIPKNPYQYQVWYIVTSSYFEYLMFALIMLNTICLGMQHY NQSEQMNHISDILNVAFTIIFTLEMILKLMAFKARGYFGDPWNVFDFLIVIGSIIDVILS EIDTFLASSGGLYCLGGGCGNVDPDESARISSAFFRLFRVMRLIKLLSRAEGVRTLLWTF IKSFQALPYVALLIVMLFFIYAVIGMQMFGKIALVDGTQINRNNNFQTFPQAVLLLFRCA TGEAWQEILLACSYGKLCDPESDYAPGEEYTCGTNFAYYYFISFYMLCAFLVINLFVAVI MDNFDYLTRDWSILGPHHLDEFKAIWAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKFCP HRVACKRLVGMNMPLNSDGTVTFNATLFALVRTALKIKTEGNFEQANEELRAIIKKIWKR TSMKLLDQVIPPIGDDEVTVGKFYATFLIQEHFRKFMKRQEEYYGYRPKKDIVQIQAGLR TIEEEAAPEICRTVSGDLAAEEELERAMVEAAMEEGIFRRTGGLFGQVDNFLERTNSLPP VMANQRPLQFAEIEMEEMESPVFLEDFPQDPRTNPLARANTNNANANVAYGNSNHSNSHV FSSVHYEREFPEETETPATRGRALGQPCRVLGPHSKPCVEMLKGLLTQRAMPRGQAPPAP CQCPRVESSMPEDRKSSTPGSLHEETPHSRSTRENTSRCSAPATALLIQKALVRGGLGTL AADANFIMATGQALADACQMEPEEVEIMATELLKGREAPEGMASSLGCLNLGSSLGSLDQ HQGSQETLIPPRL
Number of residues	1873
Molecular Weight	212348.1
Theoretical pI	6.36
GO Classification	Functions metal ion binding high voltage-gated calcium channel activity voltage-gated calcium channel activity Processes calcium ion transport skeletal muscle fiber development endoplasmic reticulum organization extraocular skeletal muscle development skeletal muscle adaptation axon guidance skeletal system development neuromuscular junction development membrane depolarization during action potential muscle contraction calcium ion import striated muscle contraction myoblast fusion Components voltage-gated calcium channel complex plasma membrane T-tubule sarcoplasmic reticulum cytoplasm I band
General Function	Voltage-gated calcium channel activity
Specific Function	Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle.
Pfam Domain Function	Ion_trans (PF00520 ) Ca_chan_IQ (PF08763 ) GPHH (PF16905 )
Transmembrane Regions	52-70 89-108 121-139 161-179 199-218 310-334 433-451 467-486 495-513 524-542 562-581 637-661 800-818 835-854 867-885 893-911 931-950 1041-1065 1119-1137 1153-1172 1181-1199 1232-1250 1270-1289 1357-1381
GenBank Protein ID	1698403
UniProtKB ID	Q13698
UniProtKB Entry Name	CAC1S_HUMAN
Cellular Location	Membrane
Gene sequence	>lcl\|BSEQ0016765\|Voltage-dependent L-type calcium channel subunit alpha-1S (CACNA1S) ATGGAGCCATCCTCACCCCAGGATGAAGGCCTGAGGAAGAAACAGCCCAAGAAGCCAGTT CCTGAGATTCTGCCAAGGCCACCCCGGGCCTTGTTCTGCCTGACCCTGGAGAACCCCCTG AGGAAGGCCTGCATCAGCATTGTAGAATGGAAGCCCTTCGAGACGATCATCTTGCTCACC ATCTTTGCCAATTGTGTGGCCCTGGCCGTGTACCTGCCCATGCCGGAAGATGACAACAAC TCTCTGAACCTCGGCCTGGAGAAGCTGGAGTATTTCTTCCTCATTGTCTTCTCGATTGAA GCCGCCATGAAGATCATTGCCTACGGCTTCTTATTCCACCAGGACGCTTACCTGCGCAGT GGCTGGAATGTGCTGGACTTCACCATTGTCTTCCTGGGGGTCTTCACCGTGATTCTGGAA CAGGTTAACGTCATCCAAAGCCACACAGCCCCAATGAGCAGCAAAGGAGCCGGCTTGGAT GTCAAGGCCCTCAGAGCCTTCCGAGTGCTCAGACCCCTCCGGCTGGTGTCGGGGGTGCCT AGCCTGCAGGTGGTCCTGAACTCCATCTTCAAGGCCATGCTCCCCCTCTTTCACATCGCC CTGCTGGTCCTCTTTATGGTCATCATCTATGCCATCATCGGGCTGGAGCTCTTCAAGGGC AAGATGCACAAGACCTGCTACTTCATTGGTACAGATATCGTGGCCACGGTGGAGAATGAA GAGCCATCGCCCTGCGCCAGGACGGGCTCAGGGCGCCGGTGCACCATCAATGGCAGTGAG TGCCGGGGCGGCTGGCCAGGGCCCAACCATGGCATCACCCACTTCGACAACTTCGGCTTC TCCATGCTCACCGTGTACCAGTGCATTACCATGGAGGGATGGACTGACGTCCTTTACTGG GTCAATGATGCCATCGGGAATGAGTGGCCCTGGATCTATTTTGTCACCCTCATTTTGCTG GGATCCTTCTTCATCCTCAACCTGGTGCTGGGTGTCCTGAGTGGGGAATTCACCAAGGAG CGGGAGAAGGCCAAGTCCAGGGGAACCTTCCAGAAGCTCCGGGAGAAGCAGCAACTAGAT GAGGACCTTCGGGGCTACATGAGCTGGATCACGCAGGGCGAGGTCATGGATGTTGAGGAC TTCAGAGAAGGAAAACTGTCTTTGGATGAAGGTGGCTCTGACACAGAGAGCCTGTATGAA ATTGCAGGCTTGAACAAAATCATCCAGTTCATCCGACATTGGAGGCAGTGGAACCGCATC TTTCGCTGGAAGTGCCATGACATCGTGAAGTCCAAGGTCTTCTATTGGCTGGTGATTCTC ATCGTTGCCCTCAACACCCTGTCTATCGCCTCAGAGCACCACAACCAGCCTCTCTGGCTG ACCCGTTTGCAAGACATTGCCAACCGGGTGCTGCTGTCCCTCTTCACCACTGAGATGCTG ATGAAGATGTACGGGCTGGGCCTGCGCCAGTACTTCATGTCTATCTTCAACCGCTTCGAC TGCTTCGTGGTGTGTAGCGGTATCCTGGAGATCCTGCTGGTGGAGTCGGGTGCCATGACA CCCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCTCCTGAGGATCTTCAAGATCACCAAA TATTGGACGTCGCTGAGCAACCTGGTGGCATCCCTGCTCAACTCCATCCGCTCCATCGCC TCCCTGCTGCTGCTGCTCTTCCTCTTCATCGTCATCTTCGCCCTCCTGGGCATGCAGCTC TTTGGGGGGAGGTATGACTTTGAAGACACAGAAGTACGGCGCAGCAACTTTGACAACTTT CCCCAAGCCCTCATCAGCGTCTTCCAGGTACTGACAGGGGAAGACTGGACCTCAATGATG TACAATGGGATCATGGCCTACGGCGGGCCGTCCTACCCTGGCATGCTTGTGTGCATTTAC TTCATCATCCTTTTCGTCTGTGGCAACTACATCCTGCTCAATGTCTTCCTGGCCATTGCC GTGGACAACCTGGCCGAGGCGGAGAGCCTGACTTCTGCCCAGAAGGCCAAGGCTGAGGAG AAAAAACGCAGGAAGATGTCCAAGGGTCTCCCAGACAAGTCAGAAGAGGAGAAGTCAACG ATGGCCAAGAAGCTGGAGCAGAAACCCAAGGGTGAGGGCATCCCCACCACTGCCAAGCTG AAAATCGATGAGTTTGAATCTAATGTCAATGAGGTGAAGGATCCCTACCCCTCAGCCGAC TTCCCAGGGGATGACGAGGAAGATGAGCCTGAGATCCCGCTGAGCCCCCGACCACGTCCC CTGGCTGAGCTGCAGCTGAAAGAGAAGGCCGTGCCCATTCCAGAAGCCAGCTCCTTCTTC ATCTTCAGCCCCACCAATAAGATCCGTGTCCTGTGTCACCGCATCGTCAATGCCACCTGG TTTACCAACTTCATCCTGCTCTTCATCCTGCTCAGCAGCGCTGCACTGGCTGCGGAAGAC CCCATCCGGGCTGATTCCATGAGAAATCAGATCCTTAAACACTTTGACATCGGGTTCACC TCTGTCTTCACTGTGGAGATTGTCCTCAAGATGACGACCTACGGAGCCTTCCTGCACAAG GGTTCCTTCTGCCGCAATTACTTCAACATGCTGGACCTGCTGGTGGTGGCCGTGTCCCTC ATCTCCATGGGACTTGAGTCCAGTGCCATCTCCGTGGTGAAGATCCTGAGGGTGCTGAGG GTGCTCCGACCACTCAGAGCCATCAACAGAGCCAAGGGGTTGAAGCACGTGGTGCAGTGC ATGTTCGTGGCCATCAGCACCATCGGGAACATCGTGCTGGTCACTACCCTCCTACAGTTC ATGTTTGCCTGCATCGGCGTCCAGCTCTTCAAGGGGAAGTTCTTCAGGTGCACCGACTTG TCCAAGATGACAGAGGAGGAGTGCAGGGGCTACTACTACGTGTACAAGGACGGGGACCCC ATGCAGATAGAGCTGCGTCACCGCGAGTGGGTACACAGCGACTTCCACTTCGACAATGTG CTCTCAGCCATGATGTCCCTCTTCACGGTCTCCACCTTCGAGGGATGGCCTCAGCTGCTG TACAAGGCCATAGACTCCAATGCGGAGGACGTGGGTCCCATCTACAACAACCGTGTGGAG ATGGCCATCTTCTTCATCATCTACATCATCCTCATTGCCTTCTTCATGATGAACATCTTT GTGGGCTTCGTCATTGTCACCTTCCAGGAGCAGGGAGAGACTGAGTACAAGAACTGTGAG CTGGACAAGAACCAGCGCCAATGTGTACAGTATGCCCTGAAGGCCCGCCCACTGAGGTGC TACATTCCCAAAAACCCATACCAGTACCAGGTGTGGTACATTGTCACCTCCTCCTACTTT GAATACCTGATGTTTGCCCTCATCATGCTCAACACCATCTGCCTCGGCATGCAGCACTAC AACCAGTCGGAGCAGATGAACCACATCTCAGACATCCTCAATGTGGCCTTCACTATCATC TTCACCCTGGAGATGATCCTCAAGCTCATGGCCTTCAAGGCCAGGGGCTACTTTGGAGAC CCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGT GAGATCGACACTTTCCTGGCCTCCAGCGGGGGACTGTATTGCCTGGGTGGAGGCTGCGGG AACGTTGACCCAGATGAGAGTGCCCGCATCTCCAGCGCCTTCTTCCGCCTGTTCCGTGTC ATGAGGCTGATCAAGCTGCTGAGCCGGGCAGAAGGAGTGCGAACCCTCCTGTGGACGTTC ATCAAGTCCTTCCAGGCCCTACCCTACGTGGCTCTGCTCATCGTCATGCTCTTCTTCATC TACGCTGTCATCGGCATGCAGATGTTTGGGAAGATCGCCTTGGTGGATGGGACCCAAATA AACCGGAACAACAACTTCCAGACCTTCCCACAAGCTGTGCTACTGCTCTTCAGGTGTGCA ACAGGTGAGGCCTGGCAGGAGATCCTACTGGCCTGCAGCTATGGGAAGCTGTGTGACCCA GAGTCGGACTATGCCCCAGGGGAGGAGTACACATGTGGCACCAACTTTGCATACTACTAC TTCATCAGCTTCTACATGCTCTGTGCCTTCCTGGTCATCAACCTCTTTGTGGCTGTCATC ATGGACAATTTTGACTACCTCACCCGGGACTGGTCCATCCTGGGCCCTCATCACCTGGAT GAGTTCAAGGCCATCTGGGCAGAGTATGACCCAGAGGCTAAGGGGAGAATCAAACACCTG GACGTGGTGACCCTGCTGAGAAGGATTCAGCCCCCTCTGGGCTTTGGGAAGTTCTGCCCA CATCGGGTAGCTTGTAAGCGGCTGGTGGGCATGAACATGCCCCTGAACAGCGACGGCACA GTCACCTTCAATGCCACACTCTTTGCCCTGGTCCGCACGGCACTCAAGATCAAGACGGAA GGTAACTTTGAGCAGGCCAACGAGGAGCTGAGGGCCATCATCAAGAAGATCTGGAAGAGA ACCAGCATGAAGCTCTTGGACCAGGTCATCCCTCCAATAGGAGATGATGAGGTGACAGTG GGGAAGTTCTACGCCACATTCCTCATCCAGGAGCACTTCCGGAAGTTCATGAAACGCCAA GAGGAGTATTATGGCTATCGGCCCAAGAAGGACATTGTACAGATCCAGGCAGGGCTGCGG ACCATTGAGGAAGAGGCAGCCCCCGAGATCTGTCGCACGGTCTCAGGAGACCTGGCTGCT GAGGAGGAGCTGGAGAGAGCCATGGTGGAGGCTGCGATGGAGGAGGGAATATTCCGGAGG ACTGGAGGCCTGTTTGGCCAGGTGGACAACTTCCTGGAAAGGACCAACTCCCTGCCCCCC GTCATGGCCAATCAGAGACCCCTCCAGTTTGCTGAGATAGAGATGGAAGAGATGGAGTCA CCTGTCTTCTTGGAGGACTTCCCACAAGATCCACGCACCAACCCCCTGGCTCGTGCCAAT ACCAACAATGCCAACGCCAATGTCGCCTATGGCAACAGCAACCATAGCAACAGCCATGTG TTTTCCAGTGTCCACTATGAAAGGGAGTTCCCAGAAGAGACAGAGACGCCTGCTACCAGA GGACGAGCCCTTGGCCAACCCTGCAGGGTCCTGGGACCCCACAGCAAACCCTGTGTGGAG ATGCTGAAGGGACTGCTGACCCAGAGGGCAATGCCCAGAGGCCAGGCACCTCCTGCCCCC TGCCAGTGCCCCAGGGTGGAGTCCTCCATGCCTGAGGACAGAAAGAGCTCCACACCAGGG TCTCTTCATGAGGAGACACCCCACAGCAGGAGCACCAGGGAGAATACTTCCAGGTGCTCA GCACCAGCTACAGCCCTGCTGATCCAAAAGGCTCTGGTTCGAGGGGGCCTGGGCACCTTG GCAGCTGATGCAAACTTCATCATGGCAACAGGCCAGGCCCTGGCAGATGCCTGCCAAATG GAACCAGAGGAAGTGGAGATCATGGCAACAGAGCTACTGAAAGGACGAGAGGCCCCAGAG GGCATGGCCAGCTCCCTGGGATGCCTGAACCTCGGGTCCTCCCTGGGCAGCCTCGACCAA CACCAGGGCTCCCAGGAGACCCTTATTCCTCCAAGGCTGTGA
GenBank Gene ID	U30707
GeneCard ID	Not Available
GenAtlas ID	CACNA1S
HGNC ID	HGNC:1397
Chromosome Location	1
Locus	1q32
References	Hogan K, Powers PA, Gregg RG: Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). Genomics. 1994 Dec;24(3):608-9. 7713519 Hogan K, Gregg RG, Powers PA: The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3). 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Genome Res. 2004 Oct;14(10B):2121-7. 15489334 Gregg RG, Couch F, Hogan K, Powers PA: Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32. Genomics. 1993 Jan;15(1):107-12. 7916735 Ptacek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, et al.: Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell. 1994 Jun 17;77(6):863-8. 8004673 Kung AW, Lau KS, Fong GC, Chan V: Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis. J Clin Endocrinol Metab. 2004 Mar;89(3):1340-5. 15001631 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.: A calcium channel mutation causing hypokalemic periodic paralysis. 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Epub 2007 Apr 5. 17418573 Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG: Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. Epub 2008 Dec 31. 19118277