Voltage-dependent P/Q-type calcium channel subunit alpha-1A

Details

Name
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Kind
protein
Synonyms
  • BI
  • Brain calcium channel I
  • CACH4
  • CACN3
  • CACNL1A4
  • Calcium channel, L type, alpha-1 polypeptide isoform 4
  • Voltage-gated calcium channel subunit alpha Cav2.1
Gene Name
CACNA1A
UniProtKB Entry
O00555Swiss-Prot
Organism
Humans
NCBI Taxonomy ID
9606
Amino acid sequence
>lcl|BSEQ0054315|Voltage-dependent P/Q-type calcium channel subunit alpha-1A
MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMA
LYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQH
LPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTG
ILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIF
AIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ
FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLS
GEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDAL
RRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYIR
RMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYGL
GTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASLR
NLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMTV
FQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANAQ
ELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTSE
MRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSRA
AEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGRE
SDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHRA
HRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARRE
DKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESAA
PHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKTP
ENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEEE
KKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIAL
AAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIVV
SGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNIL
IVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYEF
HYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPFF
FVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMWQ
FVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAFG
ILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRIL
LWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFRT
FFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSFL
MLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMSP
PLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMDA
ELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREEQ
DRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMFQ
KTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAEN
QRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRSH
RASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHHP
PPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTPR
RGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQQQAVARPGRAATSGPRR
YPGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEG
PPGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGP
ACASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC
Number of residues
2506
Molecular Weight
282561.605
Theoretical pI
9.1
GO Classification
Functions
high voltage-gated calcium channel activity / metal ion binding / syntaxin binding / voltage-gated calcium channel activity
Processes
positive regulation of cytosolic calcium ion concentration
Components
cell projection / cytoplasm / neuronal cell body / nucleus / plasma membrane / voltage-gated calcium channel complex
General 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-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP)
Specific Function
amyloid-beta binding
Pfam Domain Function
Signal Regions
Not Available
Transmembrane Regions
99-117 136-155 168-185 191-209 229-248 336-360 487-505 521-540 549-567 578-596 616-635 689-713 1242-1260 1277-1296 1309-1327 1339-1357 1377-1396 1484-1508 1564-1592 1598-1617 1626-1644 1652-1670 1690-1709 1782-1806
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0010260|Voltage-dependent P/Q-type calcium channel subunit alpha-1A (CACNA1A)
ATGGCCCGCTTCGGAGACGAGATGCCGGCCCGCTACGGGGGAGGAGGCTCCGGGGCAGCC
GCCGGGGTGGTCGTGGGCAGCGGAGGCGGGCGAGGAGCCGGGGGCAGCCGGCAGGGCGGG
CAGCCCGGGGCGCAAAGGATGTACAAGCAGTCAATGGCGCAGAGAGCGCGGACCATGGCA
CTCTACAACCCCATCCCCGTCCGACAGAACTGCCTCACGGTTAACCGGTCTCTCTTCCTC
TTCAGCGAAGACAACGTGGTGAGAAAATACGCCAAAAAGATCACCGAATGGCCTCCCTTT
GAATATATGATTTTAGCCACCATCATAGCGAATTGCATCGTCCTCGCACTGGAGCAGCAT
CTGCCTGATGATGACAAGACCCCGATGTCTGAACGGCTGGATGACACAGAACCATACTTC
ATTGGAATTTTTTGTTTCGAGGCTGGAATTAAAATCATTGCCCTTGGGTTTGCCTTCCAC
AAAGGCTCCTACTTGAGGAATGGCTGGAATGTCATGGACTTTGTGGTGGTGCTAACGGGC
ATCTTGGCGACAGTTGGGACGGAGTTTGACCTACGGACGCTGAGGGCAGTTCGAGTGCTG
CGGCCGCTCAAGCTGGTGTCTGGAATCCCAAGTTTACAAGTCGTCCTGAAGTCGATCATG
AAGGCGATGATCCCTTTGCTGCAGATCGGCCTCCTCCTATTTTTTGCAATCCTTATTTTT
GCAATCATAGGGTTAGAATTTTATATGGGAAAATTTCATACCACCTGCTTTGAAGAGGGG
ACAGATGACATTCAGGGTGAGTCTCCGGCTCCATGTGGGACAGAAGAGCCCGCCCGCACC
TGCCCCAATGGGACCAAATGTCAGCCCTACTGGGAAGGGCCCAACAACGGGATCACTCAG
TTCGACAACATCCTGTTTGCAGTGCTGACTGTTTTCCAGTGCATAACCATGGAAGGGTGG
ACTGATCTCCTCTACAATAGCAACGATGCCTCAGGGAACACTTGGAACTGGTTGTACTTC
ATCCCCCTCATCATCATCGGCTCCTTTTTTATGCTGAACCTTGTGCTGGGTGTGCTGTCA
GGGGAGTTTGCCAAAGAAAGGGAACGGGTGGAGAACCGGCGGGCTTTTCTGAAGCTGAGG
CGGCAACAACAGATTGAACGTGAGCTCAATGGGTACATGGAGTGGATCTCAAAAGCAGAA
GAGGTGATCCTCGCCGAGGATGAAACTGACGGGGAGCAGAGGCATCCCTTTGATGGAGCT
CTGCGGAGAACCACCATAAAGAAAAGCAAGACAGATTTGCTCAACCCCGAAGAGGCTGAG
GATCAGCTGGCTGATATAGCCTCTGTGGGTTCTCCCTTCGCCCGAGCCAGCATTAAAAGT
GCCAAGCTGGAGAACTCGACCTTTTTTCACAAAAAGGAGAGGAGGATGCGTTTCTACATC
CGCCGCATGGTCAAAACTCAGGCCTTCTACTGGACTGTACTCAGTTTGGTAGCTCTCAAC
ACGCTGTGTGTTGCTATTGTTCACTACAACCAGCCCGAGTGGCTCTCCGACTTCCTTTAC
TATGCAGAATTCATTTTCTTAGGACTCTTTATGTCCGAAATGTTTATAAAAATGTACGGG
CTTGGGACGCGGCCTTACTTCCACTCTTCCTTCAACTGCTTTGACTGTGGGGTTATCATT
GGGAGCATCTTCGAGGTCATCTGGGCTGTCATAAAACCTGGCACATCCTTTGGAATCAGC
GTGTTACGAGCCCTCAGGTTATTGCGTATTTTCAAAGTCACAAAGTACTGGGCATCTCTC
AGAAACCTGGTCGTCTCTCTCCTCAACTCCATGAAGTCCATCATCAGCCTGTTGTTTCTC
CTTTTCCTGTTCATTGTCGTCTTCGCCCTTTTGGGAATGCAACTCTTCGGCGGCCAGTTT
AATTTCGATGAAGGGACTCCTCCCACCAACTTCGATACTTTTCCAGCAGCAATAATGACG
GTGTTTCAGATCCTGACGGGCGAAGACTGGAACGAGGTCATGTACGACGGGATCAAGTCT
CAGGGGGGCGTGCAGGGCGGCATGGTGTTCTCCATCTATTTCATTGTACTGACGCTCTTT
GGGAACTACACCCTCCTGAATGTGTTCTTGGCCATCGCTGTGGACAATCTGGCCAACGCC
CAGGAGCTCACCAAGGTGGAGGCGGACGAGCAAGAGGAAGAAGAAGCAGCGAACCAGAAA
CTTGCCCTACAGAAAGCCAAGGAGGTGGCAGAAGTGAGTCCTCTGTCCGCGGCCAACATG
TCTATAGCTGTGAAAGAGCAACAGAAGAATCAAAAGCCAGCCAAGTCCGTGTGGGAGCAG
CGGACCAGTGAGATGCGAAAGCAGAACTTGCTGGCCAGCCGGGAGGCCCTGTATAACGAA
ATGGACCCGGACGAGCGCTGGAAGGCTGCCTACACGCGGCACCTGCGGCCAGACATGAAG
ACGCACTTGGACCGGCCGCTGGTGGTGGACCCGCAGGAGAACCGCAACAACAACACCAAC
AAGAGCCGGGCGGCCGAGCCCACCGTGGACCAGCGCCTCGGCCAGCAGCGCGCCGAGGAC
TTCCTCAGGAAACAGGCCCGCTACCACGATCGGGCCCGGGACCCCAGCGGCTCGGCGGGC
CTGGACGCACGGAGGCCCTGGGCGGGAAGCCAGGAGGCCGAGCTGAGCCGGGAGGGACCC
TACGGCCGCGAGTCGGACCACCACGCCCGGGAGGGCAGCCTGGAGCAACCCGGGTTCTGG
GAGGGCGAGGCCGAGCGAGGCAAGGCCGGGGACCCCCACCGGAGGCACGTGCACCGGCAG
GGGGGCAGCAGGGAGAGCCGCAGCGGGTCCCCGCGCACGGGCGCGGACGGGGAGCATCGA
CGTCATCGCGCGCACCGCAGGCCCGGGGAGGAGGGTCCGGAGGACAAGGCGGAGCGGAGG
GCGCGGCACCGCGAGGGCAGCCGGCCGGCCCGGGGCGGCGAGGGCGAGGGCGAGGGCCCC
GACGGGGGCGAGCGCAGGAGAAGGCACCGGCATGGCGCTCCAGCCACGTACGAGGGGGAC
GCGCGGAGGGAGGACAAGGAGCGGAGGCATCGGAGGAGGAAAGAGAACCAGGGCTCCGGG
GTCCCTGTGTCGGGCCCCAACCTGTCAACCACCCGGCCAATCCAGCAGGACCTGGGCCGC
CAAGACCCACCCCTGGCAGAGGATATTGACAACATGAAGAACAACAAGCTGGCCACCGCG
GAGTCGGCCGCTCCCCACGGCAGCCTTGGCCACGCCGGCCTGCCCCAGAGCCCAGCCAAG
ATGGGAAACAGCACCGACCCCGGCCCCATGCTGGCCATCCCTGCCATGGCCACCAACCCC
CAGAACGCCGCCAGCCGCCGGACGCCCAACAACCCGGGGAACCCATCCAATCCCGGCCCC
CCCAAGACCCCCGAGAATAGCCTTATCGTCACCAACCCCAGCGGCACCCAGACCAATTCA
GCTAAGACTGCCAGGAAACCCGACCACACCACAGTGGACATCCCCCCAGCCTGCCCACCC
CCCCTCAACCACACCGTCGTACAAGTGAACAAAAACGCCAACCCAGACCCACTGCCAAAA
AAAGAGGAAGAGAAGAAGGAGGAGGAGGAAGACGACCGTGGGGAAGACGGCCCTAAGCCA
ATGCCTCCCTATAGCTCCATGTTCATCCTGTCCACGACCAACCCCCTTCGCCGCCTGTGC
CATTACATCCTGAACCTGCGCTACTTTGAGATGTGCATCCTCATGGTCATTGCCATGAGC
AGCATCGCCCTGGCCGCCGAGGACCCTGTGCAGCCCAACGCACCTCGGAACAACGTGCTG
CGATACTTTGACTACGTTTTTACAGGCGTCTTTACCTTTGAGATGGTGATCAAGATGATT
GACCTGGGGCTCGTCCTGCATCAGGGTGCCTACTTCCGTGACCTCTGGAATATTCTCGAC
TTCATAGTGGTCAGTGGGGCCCTGGTAGCCTTTGCCTTCACTGGCAATAGCAAAGGAAAA
GACATCAACACGATTAAATCCCTCCGAGTCCTCCGGGTGCTACGACCTCTTAAAACCATC
AAGCGGCTGCCAAAGCTCAAGGCTGTGTTTGACTGTGTGGTGAACTCACTTAAAAACGTC
TTCAACATCCTCATCGTCTACATGCTATTCATGTTCATCTTCGCCGTGGTGGCTGTGCAG
CTCTTCAAGGGGAAATTCTTCCACTGCACTGACGAGTCCAAAGAGTTTGAGAAAGATTGT
CGAGGCAAATACCTCCTCTACGAGAAGAATGAGGTGAAGGCGCGAGACCGGGAGTGGAAG
AAGTATGAATTCCATTACGACAATGTGCTGTGGGCTCTGCTGACCCTCTTCACCGTGTCC
ACGGGAGAAGGCTGGCCACAGGTCCTCAAGCATTCGGTGGACGCCACCTTTGAGAACCAG
GGCCCCAGCCCCGGGTACCGCATGGAGATGTCCATTTTCTACGTCGTCTACTTTGTGGTG
TTCCCCTTCTTCTTTGTCAATATCTTTGTGGCCTTGATCATCATCACCTTCCAGGAGCAA
GGGGACAAGATGATGGAGGAATACAGCCTGGAGAAAAATGAGAGGGCCTGCATTGATTTC
GCCATCAGCGCCAAGCCGCTGACCCGACACATGCCGCAGAACAAGCAGAGCTTCCAGTAC
CGCATGTGGCAGTTCGTGGTGTCTCCGCCTTTCGAGTACACGATCATGGCCATGATCGCC
CTCAACACCATCGTGCTTATGATGAAGTTCTATGGGGCTTCTGTTGCTTATGAAAATGCC
CTGCGGGTGTTCAACATCGTCTTCACCTCCCTCTTCTCTCTGGAATGTGTGCTGAAAGTC
ATGGCTTTTGGGATTCTGAATTATTTCCGCGATGCCTGGAACATCTTCGACTTTGTGACT
GTTCTGGGCAGCATCACCGATATCCTCGTGACTGAGTTTGGGAATCCGAATAACTTCATC
AACCTGAGCTTTCTCCGCCTCTTCCGAGCTGCCCGGCTCATCAAACTTCTCCGTCAGGGT
TACACCATCCGCATTCTTCTCTGGACCTTTGTGCAGTCCTTCAAGGCCCTGCCTTATGTC
TGTCTGCTGATCGCCATGCTCTTCTTCATCTATGCCATCATTGGGATGCAGGTGTTTGGT
AACATTGGCATCGACGTGGAGGACGAGGACAGTGATGAAGATGAGTTCCAAATCACTGAG
CACAATAACTTCCGGACCTTCTTCCAGGCCCTCATGCTTCTCTTCCGGAGTGCCACCGGG
GAAGCTTGGCACAACATCATGCTTTCCTGCCTCAGCGGGAAACCGTGTGATAAGAACTCT
GGCATCCTGACTCGAGAGTGTGGCAATGAATTTGCTTATTTTTACTTTGTTTCCTTCATC
TTCCTCTGCTCGTTTCTGATGCTGAATCTCTTTGTCGCCGTCATCATGGACAACTTTGAG
TACCTCACCCGAGACTCCTCCATCCTGGGCCCCCACCACCTGGATGAGTACGTGCGTGTC
TGGGCCGAGTATGACCCCGCAGCTTGGGGCCGCATGCCTTACCTGGACATGTATCAGATG
CTGAGACACATGTCTCCGCCCCTGGGTCTGGGGAAGAAGTGTCCGGCCAGAGTGGCTTAC
AAGCGGCTTCTGCGGATGGACCTGCCCGTCGCAGATGACAACACCGTCCACTTCAATTCC
ACCCTCATGGCTCTGATCCGCACAGCCCTGGACATCAAGATTGCCAAGGGAGGAGCCGAC
AAACAGCAGATGGACGCTGAGCTGCGGAAGGAGATGATGGCGATTTGGCCCAATCTGTCC
CAGAAGACGCTAGACCTGCTGGTCACACCTCACAAGTCCACGGACCTCACCGTGGGGAAG
ATCTACGCAGCCATGATGATCATGGAGTACTACCGGCAGAGCAAGGCCAAGAAGCTGCAG
GCCATGCGCGAGGAGCAGGACCGGACACCCCTCATGTTCCAGCGCATGGAGCCCCCGTCC
CCAACGCAGGAAGGGGGACCTGGCCAGAACGCCCTCCCCTCCACCCAGCTGGACCCAGGA
GGAGCCCTGATGGCTCACGAAAGCGGCCTCAAGGAGAGCCCGTCCTGGGTGACCCAGCGT
GCCCAGGAGATGTTCCAGAAGACGGGCACATGGAGTCCGGAACAAGGCCCCCCTACCGAC
ATGCCCAACAGCCAGCCTAACTCTCAGTCCGTGGAGATGCGAGAGATGGGCAGAGATGGC
TACTCCGACAGCGAGCACTACCTCCCCATGGAAGGCCAGGGCCGGGCTGCCTCCATGCCC
CGCCTCCCTGCAGAGAACCAGAGGAGAAGGGGCCGGCCACGTGGGAATAACCTCAGTACC
ATCTCAGACACCAGCCCCATGAAGCGTTCAGCCTCCGTGCTGGGCCCCAAGGCCCGACGC
CTGGACGATTACTCGCTGGAGCGGGTCCCGCCCGAGGAGAACCAGCGGCACCACCAGCGG
CGCCGCGACCGCAGCCACCGCGCCTCTGAGCGCTCCCTGGGCCGCTACACCGATGTGGAC
ACAGGCTTGGGGACAGACCTGAGCATGACCACCCAATCCGGGGACCTGCCGTCGAAGGAG
CGGGACCAGGAGCGGGGCCGGCCCAAGGATCGGAAGCATCGACAGCACCACCACCACCAC
CACCACCACCACCATCCCCCGCCCCCCGACAAGGACCGCTATGCCCAGGAACGGCCGGAC
CACGGCCGGGCACGGGCTCGGGACCAGCGCTGGTCCCGCTCGCCCAGCGAGGGCCGAGAG
CACATGGCGCACCGGCAGTAG
Chromosome Location
19
Locus
19p13.13
External Identifiers
ResourceLink
UniProtKB IDO00555
UniProtKB Entry NameCAC1A_HUMAN
GenBank Protein ID2213913
GenBank Gene IDAF004884
GeneCard IDCACNA1A
GenAtlas IDCACNA1A
HGNC IDHGNC:1388
PDB ID(s)3BXK, 8X90, 8X91, 8X93
KEGG IDhsa:773
NCBI Gene ID773
General References
  1. Hans M, Urrutia A, Deal C, Brust PF, Stauderman K, Ellis SB, Harpold MM, Johnson EC, Williams ME: Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels. Biophys J. 1999 Mar;76(3):1384-400. [Article]
  2. Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR: Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996 Nov 1;87(3):543-52. [Article]
  3. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9. [Article]
  4. Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T: Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. J Biol Chem. 2000 Apr 14;275(15):10893-8. [Article]
  5. Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. [Article]
  6. Barry EL, Viglione MP, Kim YI, Froehner SC: Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells. J Neurosci. 1995 Jan;15(1 Pt 1):274-83. [Article]
  7. Oguro-Okano M, Griesmann GE, Wieben ED, Slaymaker SJ, Snutch TP, Lennon VA: Molecular diversity of neuronal-type calcium channels identified in small cell lung carcinoma. Mayo Clin Proc. 1992 Dec;67(12):1150-9. [Article]
  8. Margolis RL, Breschel TS, Li SH, Kidwai AS, Antonarakis SE, McInnis MG, Ross CA: Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain. Somat Cell Mol Genet. 1995 Jul;21(4):279-84. [Article]
  9. Lee A, Westenbroek RE, Haeseleer F, Palczewski K, Scheuer T, Catterall WA: Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1. Nat Neurosci. 2002 Mar;5(3):210-7. [Article]
  10. Mori MX, Vander Kooi CW, Leahy DJ, Yue DT: Crystal structure of the CaV2 IQ domain in complex with Ca2+/calmodulin: high-resolution mechanistic implications for channel regulation by Ca2+. Structure. 2008 Apr;16(4):607-20. doi: 10.1016/j.str.2008.01.011. [Article]
  11. Yue Q, Jen JC, Nelson SF, Baloh RW: Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet. 1997 Nov;61(5):1078-87. [Article]
  12. Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M: Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997 Oct;6(11):1973-8. [Article]
  13. Friend KL, Crimmins D, Phan TG, Sue CM, Colley A, Fung VS, Morris JG, Sutherland GR, Richards RI: Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. Hum Genet. 1999 Sep;105(3):261-5. [Article]
  14. Carrera P, Piatti M, Stenirri S, Grimaldi LM, Marchioni E, Curcio M, Righetti PG, Ferrari M, Gelfi C: Genetic heterogeneity in Italian families with familial hemiplegic migraine. Neurology. 1999 Jul 13;53(1):26-33. [Article]
  15. Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD: Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. Ann Neurol. 2001 Jun;49(6):753-60. [Article]
  16. Denier C, Ducros A, Durr A, Eymard B, Chassande B, Tournier-Lasserve E: Missense CACNA1A mutation causing episodic ataxia type 2. Arch Neurol. 2001 Feb;58(2):292-5. [Article]
  17. Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, Darcel F, Vicaut E, Bousser MG, Tournier-Lasserve E: The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med. 2001 Jul 5;345(1):17-24. [Article]
  18. Jen J, Wan J, Graves M, Yu H, Mock AF, Coulin CJ, Kim G, Yue Q, Papazian DM, Baloh RW: Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. Neurology. 2001 Nov 27;57(10):1843-8. [Article]
  19. van den Maagdenberg AM, Kors EE, Brunt ER, van Paesschen W, Pascual J, Ravine D, Keeling S, Vanmolkot KR, Vermeulen FL, Terwindt GM, Haan J, Frants RR, Ferrari MD: Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. J Neurol. 2002 Nov;249(11):1515-9. [Article]
  20. Spacey SD, Hildebrand ME, Materek LA, Bird TD, Snutch TP: Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Ann Neurol. 2004 Aug;56(2):213-20. [Article]
  21. Alonso I, Barros J, Tuna A, Seixas A, Coutinho P, Sequeiros J, Silveira I: A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. Clin Genet. 2004 Jan;65(1):70-2. [Article]
  22. Mantuano E, Veneziano L, Spadaro M, Giunti P, Guida S, Leggio MG, Verriello L, Wood N, Jodice C, Frontali M: Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2. J Med Genet. 2004 Jun;41(6):e82. [Article]
  23. Jen J, Kim GW, Baloh RW: Clinical spectrum of episodic ataxia type 2. Neurology. 2004 Jan 13;62(1):17-22. [Article]
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Associated Data

Drug Relations
DrugDrug groupPharmacological action?TypeActionsDetails
LoperamideapprovednotargetblockerDetails
Bepridilapproved, withdrawnyestargetinhibitorDetails
DotarizineinvestigationalunknowntargetDetails
VerapamilapprovedunknowntargetinhibitorDetails
ZiconotideapprovednotargetinhibitorDetails
FlunarizineapprovedyestargetinhibitorDetails