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

Details

Name
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
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
Organism
Humans
Amino acid sequence
>lcl|BSEQ0000709|Voltage-dependent P/Q-type calcium channel subunit alpha-1A
MARFGDEMPARYGGGGSGAAAGVVVGSGGGRGAGGSRQGGQPGAQRMYKQSMAQRARTMA
LYNPIPVRQNCLTVNRSLFLFSEDNVVRKYAKKITEWPPFEYMILATIIANCIVLALEQH
LPDDDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFAFHKGSYLRNGWNVMDFVVVLTG
ILATVGTEFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMIPLLQIGLLLFFAILIF
AIIGLEFYMGKFHTTCFEEGTDDIQGESPAPCGTEEPARTCPNGTKCQPYWEGPNNGITQ
FDNILFAVLTVFQCITMEGWTDLLYNSNDASGNTWNWLYFIPLIIIGSFFMLNLVLGVLS
GEFAKERERVENRRAFLKLRRQQQIERELNGYMEWISKAEEVILAEDETDGEQRHPFDGA
LRRTTIKKSKTDLLNPEEAEDQLADIASVGSPFARASIKSAKLENSTFFHKKERRMRFYI
RRMVKTQAFYWTVLSLVALNTLCVAIVHYNQPEWLSDFLYYAEFIFLGLFMSEMFIKMYG
LGTRPYFHSSFNCFDCGVIIGSIFEVIWAVIKPGTSFGISVLRALRLLRIFKVTKYWASL
RNLVVSLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFDEGTPPTNFDTFPAAIMT
VFQILTGEDWNEVMYDGIKSQGGVQGGMVFSIYFIVLTLFGNYTLLNVFLAIAVDNLANA
QELTKDEQEEEEAANQKLALQKAKEVAEVSPLSAANMSIAVKEQQKNQKPAKSVWEQRTS
EMRKQNLLASREALYNEMDPDERWKAAYTRHLRPDMKTHLDRPLVVDPQENRNNNTNKSR
AAEPTVDQRLGQQRAEDFLRKQARYHDRARDPSGSAGLDARRPWAGSQEAELSREGPYGR
ESDHHAREGSLEQPGFWEGEAERGKAGDPHRRHVHRQGGSRESRSGSPRTGADGEHRRHR
AHRRPGEEGPEDKAERRARHREGSRPARGGEGEGEGPDGGERRRRHRHGAPATYEGDARR
EDKERRHRRRKENQGSGVPVSGPNLSTTRPIQQDLGRQDPPLAEDIDNMKNNKLATAESA
APHGSLGHAGLPQSPAKMGNSTDPGPMLAIPAMATNPQNAASRRTPNNPGNPSNPGPPKT
PENSLIVTNPSGTQTNSAKTARKPDHTTVDIPPACPPPLNHTVVQVNKNANPDPLPKKEE
EKKEEEEDDRGEDGPKPMPPYSSMFILSTTNPLRRLCHYILNLRYFEMCILMVIAMSSIA
LAAEDPVQPNAPRNNVLRYFDYVFTGVFTFEMVIKMIDLGLVLHQGAYFRDLWNILDFIV
VSGALVAFAFTGNSKGKDINTIKSLRVLRVLRPLKTIKRLPKLKAVFDCVVNSLKNVFNI
LIVYMLFMFIFAVVAVQLFKGKFFHCTDESKEFEKDCRGKYLLYEKNEVKARDREWKKYE
FHYDNVLWALLTLFTVSTGEGWPQVLKHSVDATFENQGPSPGYRMEMSIFYVVYFVVFPF
FFVNIFVALIIITFQEQGDKMMEEYSLEKNERACIDFAISAKPLTRHMPQNKQSFQYRMW
QFVVSPPFEYTIMAMIALNTIVLMMKFYGASVAYENALRVFNIVFTSLFSLECVLKVMAF
GILNYFRDAWNIFDFVTVLGSITDILVTEFGNNFINLSFLRLFRAARLIKLLRQGYTIRI
LLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQVFGNIGIDVEDEDSDEDEFQITEHNNFR
TFFQALMLLFRSATGEAWHNIMLSCLSGKPCDKNSGILTRECGNEFAYFYFVSFIFLCSF
LMLNLFVAVIMDNFEYLTRDSSILGPHHLDEYVRVWAEYDPAAWGRMPYLDMYQMLRHMS
PPLGLGKKCPARVAYKRLLRMDLPVADDNTVHFNSTLMALIRTALDIKIAKGGADKQQMD
AELRKEMMAIWPNLSQKTLDLLVTPHKSTDLTVGKIYAAMMIMEYYRQSKAKKLQAMREE
QDRTPLMFQRMEPPSPTQEGGPGQNALPSTQLDPGGALMAHESGLKESPSWVTQRAQEMF
QKTGTWSPEQGPPTDMPNSQPNSQSVEMREMGRDGYSDSEHYLPMEGQGRAASMPRLPAE
NQRRRGRPRGNNLSTISDTSPMKRSASVLGPKARRLDDYSLERVPPEENQRHHQRRRDRS
HRASERSLGRYTDVDTGLGTDLSMTTQSGDLPSKERDQERGRPKDRKHRQHHHHHHHHHH
PPPPDKDRYAQERPDHGRARARDQRWSRSPSEGREHMAHRQGSSSVSGSPAPSTSGTSTP
RRGRRQLPQTPSTPRPHVSYSPVIRKAGGSGPPQQQQQQQQQQQAVARPGRAATSGPRRY
PGPTAEPLAGDRPPTGGHSSGRSPRMERRVPGPARSESPRACRHGGARWPASGPHVSEGP
PGPRHHGYYRGSDYDEADGPGSGGGEEAMAGAYDAPPPVRHASSGATGRSPRTPRASGPA
CASPSRHGRRLPNGYYPAHGLARPRGPGSRKGLHEPYSESDDDWC
Number of residues
2505
Molecular Weight
282362.39
Theoretical pI
9.1
GO Classification
Functions
high voltage-gated calcium channel activity / metal ion binding / syntaxin binding / voltage-gated calcium channel activity
Processes
adult walking behavior / behavioral response to pain / calcium ion import / calcium ion-dependent exocytosis / calcium ion-dependent exocytosis of neurotransmitter / cell death / cell growth / cellular chloride ion homeostasis / cerebellar molecular layer development / cerebellar Purkinje cell differentiation / cerebellum maturation / dendrite morphogenesis / energy reserve metabolic process / gamma-aminobutyric acid secretion / gamma-aminobutyric acid signaling pathway / glucose metabolic process / hormone metabolic process / membrane depolarization / membrane depolarization during action potential / musculoskeletal movement, spinal reflex action / negative regulation of hormone biosynthetic process / negative regulation of neuron apoptotic process / neuromuscular process controlling balance / neuromuscular synaptic transmission / neurotransmitter metabolic process / positive regulation of cytosolic calcium ion concentration / receptor clustering / regulation of acetylcholine secretion, neurotransmission / regulation of axonogenesis / regulation of calcium ion-dependent exocytosis / regulation of insulin secretion / rhythmic synaptic transmission / small molecule metabolic process / spinal cord motor neuron differentiation / sulfur amino acid metabolic process / synapse assembly / synaptic transmission / synaptic transmission, glutamatergic / transmission of nerve impulse / vestibular nucleus development
Components
cell projection / cytoplasm / cytosol / dendrite / integral component of membrane / neuronal cell body / nucleus / plasma membrane / voltage-gated calcium channel complex
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-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 blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).
Pfam Domain Function
Transmembrane Regions
99-117 136-155 168-185 191-209 229-248 336-360 488-506 522-541 550-568 579-597 617-636 690-714 1243-1261 1278-1297 1310-1328 1340-1358 1378-1397 1485-1509 1565-1593 1599-1618 1627-1645 1653-1671 1691-1710 1783-1807
Cellular Location
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
19p13.2-p13.1
External Identifiers
ResourceLink
UniProtKB IDO00555
UniProtKB Entry NameCAC1A_HUMAN
GenBank Protein ID2213913
GenBank Gene IDAF004884
GenAtlas IDCACNA1A
HGNC IDHGNC:1388
General References
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  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. [PubMed:8898206]
  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. [PubMed:8988170]
  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. [PubMed:10753886]
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  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. [PubMed:1335101]
  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. [PubMed:8525433]
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  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. [PubMed:18400181]
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  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. [PubMed:10987655]
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  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. [PubMed:11409427]
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  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. [PubMed:11439943]
  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. [PubMed:11723274]
  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. [PubMed:12420090]
  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. [PubMed:15293273]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00836LoperamideapprovedunknowninhibitorDetails
DB01244Bepridilapproved, withdrawnyesinhibitorDetails
DB06446DotarizineinvestigationalunknownDetails
DB00661VerapamilapprovedunknowninhibitorDetails
DB00421SpironolactoneapprovedunknowninhibitorDetails
DB11148Butambenapproved, withdrawnyesinhibitorDetails
DB00381AmlodipineapprovedyesblockerDetails
DB00153Ergocalciferolapproved, nutraceuticalnoinducerDetails
DB11093Calcium Citrateapproved, investigationalunknownsubstrateDetails
DB11348Calcium PhosphateapprovedunknownsubstrateDetails
DB13746Bioallethrinapproved, experimentalunknownblockerDetails
DB14481Calcium phosphate dihydrateapprovedunknownDetails