Voltage-dependent R-type calcium channel subunit alpha-1E

NameVoltage-dependent R-type calcium channel subunit alpha-1E
SynonymsBII Brain calcium channel II CACH6 CACNL1A6 Calcium channel, L type, alpha-1 polypeptide, isoform 6 Voltage-gated calcium channel subunit alpha Cav2.3
Gene NameCACNA1E
OrganismHuman
Amino acid sequence
>lcl|BSEQ0008863|Voltage-dependent R-type calcium channel subunit alpha-1E
MARFGEAVVARPGSGDGDSDQSRNRQGTPVPASGQAAAYKQTKAQRARTMALYNPIPVRQ
NCFTVNRSLFIFGEDNIVRKYAKKLIDWPPFEYMILATIIANCIVLALEQHLPEDDKTPM
SRRLEKTEPYFIGIFCFEAGIKIVALGFIFHKGSYLRNGWNVMDFIVVLSGILATAGTHF
NTHVDLRTLRAVRVLRPLKLVSGIPSLQIVLKSIMKAMVPLLQIGLLLFFAILMFAIIGL
EFYSGKLHRACFMNNSGILEGFDPPHPCGVQGCPAGYECKDWIGPNDGITQFDNILFAVL
TVFQCITMEGWTTVLYNTNDALGATWNWLYFIPLIIIGSFFVLNLVLGVLSGEFAKERER
VENRRAFMKLRRQQQIERELNGYRAWIDKAEEVMLAEENKNAGTSALEVLRRATIKRSRT
EAMTRDSSDEHCVDISSVGTPLARASIKSAKVDGVSYFRHKERLLRISIRHMVKSQVFYW
IVLSLVALNTACVAIVHHNQPQWLTHLLYYAEFLFLGLFLLEMSLKMYGMGPRLYFHSSF
NCFDFGVTVGSIFEVVWAIFRPGTSFGISVLRALRLLRIFKITKYWASLRNLVVSLMSSM
KSIISLLFLLFLFIVVFALLGMQLFGGRFNFNDGTPSANFDTFPAAIMTVFQILTGEDWN
EVMYNGIRSQGGVSSGMWSAIYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTKDEQEEE
EAFNQKHALQKAKEVSPMSAPNMPSIERDRRRRHHMSMWEPRSSHLRERRRRHHMSVWEQ
RTSQLRKHMQMSSQEALNREEAPTMNPLNPLNPLSSLNPLNAHPSLYRRPRAIEGLALGL
ALEKFEEERISRGGSLKGDGGDRSSALDNQRTPLSLGQREPPWLARPCHGNCDPTQQEAG
GGEAVVTFEDRARHRQSQRRSRHRRVRTEGKESSSASRSRSASQERSLDEAMPTEGEKDH
ELRGNHGAKEPTIQEERAQDLRRTNSLMVSRGSGLAGGLDEADTPLVLPHPELEVGKHVV
LTEQEPEGSSEQALLGNVQLDMGRVISQSEPDLSCITANTDKATTESTSVTVAIPDVDPL
VDSTVVHISNKTDGEASPLKEAEIREDEEEVEKKKQKKEKRETGKAMVPHSSMFIFSTTN
PIRRACHYIVNLRYFEMCILLVIAASSIALAAEDPVLTNSERNKVLRYFDYVFTGVFTFE
MVIKMIDQGLILQDGSYFRDLWNILDFVVVVGALVAFALANALGTNKGRDIKTIKSLRVL
RVLRPLKTIKRLPKLKAVFDCVVTSLKNVFNILIVYKLFMFIFAVIAVQLFKGKFFYCTD
SSKDTEKECIGNYVDHEKNKMEVKGREWKRHEFHYDNIIWALLTLFTVSTGEGWPQVLQH
SVDVTEEDRGPSRSNRMEMSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKMMEECSLE
KNERACIDFAISAKPLTRYMPQNRHTFQYRVWHFVVSPSFEYTIMAMIALNTVVLMMKYY
SAPCTYELALKYLNIAFTMVFSLECVLKVIAFGFLNYFRDTWNIFDFITVIGSITEIILT
DSKLVNTSGFNMSFLKLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFI
YAIIGMQVFGNIKLDEESHINRHNNFRSFFGSLMLLFRSATGEAWQEIMLSCLGEKGCEP
DTTAPSGQNENERCGTDLAYVYFVSFIFFCSFLMLNLFVAVIMDNFEYLTRDSSILGPHH
LDEFVRVWAEYDRAACGRIHYTEMYEMLTLMSPPLGLGKRCPSKVAYKRLVLMNMPVAED
MTVHFTSTLMALIRTALDIKIAKGGADRQQLDSELQKETLAIWPHLSQKMLDLLVPMPKA
SDLTVGKIYAAMMIMDYYKQSKVKKQRQQLEEQKNAPMFQRMEPSSLPQEIIANAKALPY
LQQDPVSGLSGRSGYPSMSPLSPQDIFQLACMDPADDGQFQERQSLEPEVSELKSVQPSN
HGIYLPSDTQEHAGSGRASSMPRLTVDPQVVTDPSSMRRSFSTIRDKRSNSSWLEEFSME
RSSENTYKSRRRSYHSSLRLSAHRLNSDSGHKSDTHRSGGRERGRSKERKHLLSPDVSRC
NSEERGTQADWESPERRQSRSPSEGRSQTPNRQGTGSLSESSIPSVSDTSTPRRSRRQLP
PVPPKPRPLLSYSSLIRHAGSISPPADGSEEGSPLTSQALESNNACLTESSNSPHPQQSQ
HASPQRYISEPYLALHEDSHASDCGEEETLTFEAAVATSLGRSNTIGSAPPLRHSWQMPN
GHYRRRRRGGPGPGMMCGAVNNLLSDTEEDDKC
Number of residues2313
Molecular Weight261729.05
Theoretical pINone
GO Classification
Functions
    voltage-gated calcium channel activity
calcium ion binding
high voltage-gated calcium channel activity
Processes
    glucose homeostasis
behavioral response to pain
energy reserve metabolic process
calcium ion import
regulation of insulin secretion
behavioral fear response
transport
locomotory behavior
regulation of insulin secretion involved in cellular response to glucose stimulus
sensory perception of pain
regulation of somatostatin secretion
sperm motility
membrane depolarization
membrane depolarization during action potential
transmission of nerve impulse
regulation of heart rate
synaptic transmission
small molecule metabolic process
visual learning
Components
    voltage-gated calcium channel complex
plasma membrane
General FunctionVoltage-gated calcium channel activity
Specific FunctionVoltage-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-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel, and partially by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), omega-conotoxin-GVIA (omega-CTx-GVIA), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing.
Transmembrane Regions90-108 128-146 159-173 186-205 224-244 327-350 477-496 510-529 539-557 568-586 606-625 679-703 1149-1165 1190-1209 1218-1240 1255-1272 1292-1311 1399-1422 1480-1498 1514-1533 1542-1560 1572-1590 1610-1629 1699-1724
GenBank Protein ID
UniProtKB IDQ15878
UniProtKB Entry NameCAC1E_HUMAN
Cellular LocationMembrane
Gene sequence
>lcl|BSEQ0013460|Voltage-dependent R-type calcium channel subunit alpha-1E (CACNA1E)
ATGGCTCGCTTCGGGGAGGCGGTGGTCGCCAGGCCAGGGTCCGGCGATGGAGACTCGGAC
CAGAGCAGGAACCGGCAAGGAACCCCCGTGCCGGCCTCGGGGCAGGCGGCCGCCTACAAG
CAGACGAAAGCACAGAGGGCGCGGACTATGGCTTTGTACAACCCCATTCCCGTCCGGCAG
AACTGTTTCACCGTCAACAGATCCCTGTTCATCTTCGGAGAAGATAACATTGTCAGGAAA
TATGCCAAGAAGCTCATCGATTGGCCGCCATTTGAGTACATGATCCTGGCCACCATCATT
GCCAACTGCATCGTCCTGGCCCTGGAGCAGCATCTTCCTGAGGATGACAAGACCCCCATG
TCCCGAAGACTGGAGAAGACAGAACCTTATTTCATTGGGATCTTTTGCTTTGAAGCTGGG
ATCAAAATTGTGGCCCTGGGGTTCATCTTCCATAAGGGCTCTTACCTCCGCAATGGCTGG
AATGTCATGGACTTCATCGTGGTCCTCAGTGGCATCCTGGCCACTGCAGGAACCCACTTC
AATACTCACGTGGACCTGAGGACCCTCCGGGCTGTGCGTGTCCTGCGGCCTTTGAAGCTC
GTGTCAGGGATACCTAGCCTGCAGATTGTGTTGAAGTCCATCATGAAGGCCATGGTACCT
CTTCTGCAGATTGGCCTTCTGCTCTTCTTTGCCATCCTGATGTTTGCTATCATTGGTTTG
GAGTTCTACAGTGGCAAGTTACATCGAGCATGCTTCATGAACAATTCAGGTATTCTAGAA
GGATTTGACCCCCCTCACCCATGTGGTGTGCAGGGCTGCCCAGCTGGTTATGAATGCAAG
GACTGGATCGGCCCCAATGATGGGATCACCCAGTTTGATAACATCCTTTTTGCTGTGCTG
ACTGTCTTCCAGTGCATCACCATGGAAGGGTGGACCACTGTGCTGTACAATACCAATGAT
GCCTTAGGAGCCACCTGGAATTGGCTGTACTTCATCCCCCTCATCATCATTGGATCCTTC
TTTGTTCTCAACCTAGTCCTGGGAGTGCTTTCCGGGGAATTTGCCAAAGAGAGAGAGAGA
GTGGAGAACCGAAGGGCTTTCATGAAGCTGCGGCGCCAGCAGCAGATTGAGCGTGAGCTG
AATGGCTACCGTGCCTGGATAGACAAAGCAGAGGAAGTCATGCTCGCTGAAGAAAATAAA
AATGCTGGAACATCCGCCTTAGAAGTGCTTCGAAGGGCAACCATCAAGAGGAGCCGGACA
GAGGCCATGACTCGAGACTCCAGTGATGAGCACTGTGTTGATATCTCCTCTGTGGGCACA
CCTCTGGCCCGAGCCAGTATCAAAAGTGCAAAGGTAGACGGGGTCTCTTATTTCCGGCAC
AAGGAAAGGCTTCTGCGCATCTCCATTCGCCACATGGTTAAATCCCAGGTGTTTTACTGG
ATTGTGCTGAGCCTTGTGGCACTCAACACTGCCTGTGTGGCCATTGTCCATCACAACCAG
CCCCAGTGGCTCACCCACCTCCTCTACTATGCAGAATTTCTGTTTCTGGGACTCTTCCTC
TTGGAGATGTCCCTGAAGATGTATGGCATGGGGCCTCGCCTTTATTTTCACTCTTCATTC
AACTGCTTTGATTTTGGGGTCACAGTGGGCAGTATCTTTGAAGTGGTCTGGGCAATCTTC
AGACCTGGTACGTCTTTTGGAATCAGTGTCTTGCGAGCCCTCCGGCTTCTAAGAATATTT
AAAATAACCAAGTATTGGGCTTCCCTACGGAATTTGGTGGTCTCCTTGATGAGCTCAATG
AAGTCTATCATCAGTTTGCTTTTCCTCCTCTTCCTCTTCATCGTTGTCTTTGCTCTCCTA
GGAATGCAGTTATTTGGAGGCAGGTTTAACTTTAATGATGGGACTCCTTCGGCAAATTTT
GATACCTTCCCTGCAGCCATCATGACTGTGTTCCAGATCCTGACGGGTGAGGACTGGAAT
GAGGTGATGTACAATGGGATCCGCTCCCAGGGTGGGGTCAGCTCAGGCATGTGGTCTGCC
ATCTACTTCATTGTGCTCACCTTGTTTGGCAACTACACGCTACTGAATGTGTTCTTGGCT
ATCGCTGTGGATAATCTCGCCAACGCCCAGGAACTGACCAAGGATGAACAGGAGGAAGAA
GAGGCCTTCAACCAGAAACATGCACTGCAGAAGGCCAAGGAGGTCAGCCCGATGTCTGCA
CCCAACATGCCTTCGATCGAAAGAGACAGAAGGAGAAGACACCACATGTCGATGTGGGAG
CCACGCAGCAGCCACCTGAGGGAGCGGAGGCGCCGGCACCACATGTCCGTGTGGGAGCAG
CGTACCAGCCAGCTGAGGAAGCACATGCAGATGTCCAGCCAGGAGGCCCTCAACAGAGAG
GAGGCGCCGACCATGAACCCGCTCAACCCCCTCAACCCGCTCAGCTCCCTCAACCCGCTC
AATGCCCACCCCAGCCTTTATCGGCGACCCAGGGCCATTGAGGGCCTGGCCCTGGGCCTG
GCCCTGGAGAAGTTCGAGGAGGAGCGCATCAGCCGTGGGGGGTCCCTCAAGGGGGATGGA
GGGGACCGATCCAGTGCCCTGGACAACCAGAGGACCCCTTTGTCCCTGGGCCAGCGGGAG
CCACCATGGCTGGCCAGGCCCTGTCATGGAAACTGTGACCCGACTCAGCAGGAGGCAGGG
GGAGGAGAGGCTGTGGTGACCTTTGAGGACCGGGCCAGGCACAGGCAGAGCCAACGGCGC
AGCCGGCATCGCCGCGTCAGGACAGAAGGCAAGGAGTCCTCTTCAGCCTCCCGGAGCAGG
TCTGCCAGCCAGGAACGCAGTCTGGATGAAGCCATGCCCACTGAAGGGGAGAAGGACCAT
GAGCTCAGGGGCAACCATGGTGCCAAGGAGCCAACGATCCAAGAAGAGAGAGCCCAGGAT
TTAAGGAGGACCAACAGTCTGATGGTGTCCAGAGGCTCCGGGCTGGCAGGAGGCCTTGAT
GAGGCTGACACCCCCCTAGTCCTGCCCCATCCTGAGCTGGAAGTGGGGAAGCACGTGGTG
CTGACGGAGCAGGAGCCAGAAGGCAGCAGTGAGCAGGCCCTGCTGGGGAATGTGCAGCTA
GACATGGGCCGGGTCATCAGCCAGAGCGAGCCTGACCTCTCCTGCATCACGGCCAACACG
GACAAGGCCACCACCGAGAGCACCAGCGTCACCGTCGCCATCCCCGACGTGGACCCCTTG
GTGGACTCAACCGTGGTGCACATTAGCAACAAGACGGATGGGGAAGCCAGTCCCTTGAAG
GAGGCAGAGATCAGAGAGGATGAGGAGGAGGTGGAGAAGAAGAAGCAGAAGAAGGAGAAG
CGTGAGACAGGCAAAGCCATGGTGCCCCACAGCTCAATGTTCATCTTCAGCACCACCAAC
CCGATCCGGAGGGCCTGCCACTACATCGTGAACCTGCGCTACTTTGAGATGTGCATCCTC
CTGGTGATTGCAGCCAGCAGCATCGCCCTGGCGGCAGAGGACCCCGTCCTGACCAACTCG
GAGCGCAACAAAGTCCTGAGGTATTTTGACTATGTGTTCACGGGCGTGTTCACCTTTGAG
ATGGTTATAAAGATGATAGACCAAGGCTTGATCCTGCAGGATGGGTCCTACTTCCGAGAC
TTGTGGAACATCCTGGACTTTGTGGTGGTCGTTGGCGCATTGGTGGCCTTTGCTCTGGCG
AACGCTTTGGGAACCAACAAAGGACGGGACATCAAGACCATCAAGTCTCTGCGGGTGCTC
CGAGTTCTAAGGCCACTGAAAACCATCAAGCGCTTGCCCAAGCTCAAGGCCGTCTTCGAC
TGCGTAGTGACCTCCTTGAAGAATGTCTTCAACATACTCATTGTGTACAAGCTCTTCATG
TTCATCTTTGCTGTCATCGCAGTTCAGCTCTTCAAGGGAAAGTTCTTTTATTGCACGGAC
AGTTCCAAGGACACAGAGAAGGAGTGCATAGGCAACTATGTAGATCATGAGAAAAACAAG
ATGGAGGTGAAGGGCCGGGAATGGAAGCGCCATGAATTCCACTACGACAACATTATCTGG
GCCCTGCTGACCCTCTTCACCGTCTCCACAGGGGAAGGATGGCCTCAAGTTCTGCAGCAC
TCTGTAGATGTGACAGAGGAAGACCGAGGCCCAAGCCGCAGCAACCGCATGGAGATGTCT
ATCTTTTATGTAGTCTACTTTGTGGTCTTCCCCTTCTTCTTTGTCAATATCTTTGTGGCT
CTCATCATCATCACCTTCCAGGAGCAAGGGGATAAGATGATGGAGGAGTGCAGCCTGGAG
AAGAATGAGAGGGCGTGCATCGACTTCGCCATCAGCGCCAAACCTCTCACCCGCTACATG
CCGCAGAACAGACACACCTTCCAGTACCGCGTGTGGCACTTTGTGGTGTCTCCGTCCTTT
GAGTACACCATTATGGCCATGATCGCCTTGAATACTGTTGTGCTGATGATGAAGTATTAT
TCTGCTCCCTGTACCTATGAGCTGGCCCTGAAGTACCTGAATATCGCCTTCACCATGGTG
TTTTCCCTGGAATGTGTCCTGAAGGTCATCGCTTTTGGCTTTTTGAACTATTTCCGAGAC
ACCTGGAATATCTTTGACTTCATCACCGTGATTGGCAGTATCACAGAAATTATCCTGACA
GACAGCAAGCTGGTGAACACCAGTGGCTTCAATATGAGCTTTCTGAAGCTCTTCCGAGCT
GCCCGCCTCATAAAGCTCCTGCGTCAGGGCTATACCATACGCATTTTGCTGTGGACCTTT
GTGCAGTCCTTTAAGGCCCTCCCTTATGTCTGCCTTTTAATTGCCATGCTTTTCTTCATT
TATGCCATCATTGGGATGCAGGTATTTGGAAACATAAAATTAGACGAGGAGAGTCACATC
AACCGGCACAACAACTTCCGGAGTTTCTTTGGGTCCCTAATGCTACTCTTCAGGAGTGCC
ACAGGTGAGGCCTGGCAGGAGATTATGCTGTCATGCCTTGGGGAGAAGGGCTGTGAGCCT
GACACCACCGCACCATCAGGGCAGAACGAGAACGAACGCTGCGGCACCGATCTGGCCTAC
GTGTACTTTGTCTCCTTCATCTTCTTCTGCTCCTTCTTGATGCTCAACCTGTTTGTGGCC
GTCATCATGGACAACTTTGAGTACCTGACTCGGGACTCCTCCATCCTGGGGCCTCACCAC
TTGGACGAGTTTGTCCGCGTCTGGGCAGAATATGACCGAGCAGCATGTGGCCGCATCCAT
TACACTGAGATGTATGAAATGCTGACTCTCATGTCACCTCCGCTAGGCCTCGGCAAGAGA
TGTCCCTCCAAAGTGGCATATAAGAGGTTGGTCCTGATGAACATGCCAGTAGCTGAGGAC
ATGACGGTCCACTTCACCTCCACACTTATGGCTCTGATCCGGACAGCTCTGGACATTAAA
ATTGCCAAAGGTGGTGCAGACAGGCAGCAGCTAGACTCAGAGCTACAAAAGGAGACCCTA
GCCATCTGGCCTCACCTATCCCAGAAGATGCTGGATCTGCTTGTGCCCATGCCCAAAGCC
TCTGACCTGACTGTGGGCAAAATCTATGCAGCAATGATGATCATGGACTACTATAAGCAG
AGTAAGGTGAAGAAGCAGAGGCAGCAGCTGGAGGAACAGAAAAATGCCCCCATGTTCCAG
CGCATGGAGCCTTCATCTCTGCCTCAGGAGATCATTGCTAATGCCAAAGCCCTGCCTTAC
CTCCAGCAGGACCCCGTTTCAGGCCTGAGTGGCCGGAGTGGATACCCTTCGATGAGTCCA
CTCTCTCCCCAGGATATATTCCAGTTGGCTTGTATGGACCCCGCCGATGACGGACAGTTC
CAAGAACGGCAGTCTCTGGTGGTGACAGACCCTAGCTCCATGAGACGTTCATTTTCCACT
ATTCGGGATAAGCGTTCAAATTCCTCGTGGTTGGAGGAATTCTCCATGGAGCGAAGCAGT
GAAAATACCTACAAGTCCCGTCGCCGGAGTTACCACTCCTCCTTGCGGCTGTCAGCCCAC
CGCCTGAACTCTGATTCAGGCCACAAGTCTGACACTCACCGCTCAGGGGGCAGGGAGCGG
GGACGATCAAAAGAGCGAAAGCATCTTCTCTCTCCTGATGTCTCCCGCTGCAATTCAGAA
GAGCGAGGGACCCAGGCTGACTGGGAGTCCCCAGAGCGCCGTCAATCCAGGTCACCCAGT
GAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAGAGCTCCATC
CCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTCGGCAGCTCCCACCCGTCCCG
CCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGCAGCATCTCT
CCACCTGCTGATGGAAGCGAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTGGAGAGCAAC
AATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAACATGCCTCC
CCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCACGCCTCAGAC
TGTGGTGAGGAGGAGACGCTCACTTTCGAAGCAGCCGTGGCTACTAGCCTGGGCCGTTCC
AACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAACGGGCACTAT
CGGCGGCGGAGGCGCGGGGGGCCTGGGCCAGGCATGATGTGTGGGGCTGTCAACAACCTG
CTAAGTGACACGGAAGAAGATGACAAATGCTAG
GenBank Gene ID
GeneCard IDNone
GenAtlas ID
HGNC IDHGNC:1392
Chromosome Location1
LocusNone
References
  1. Schneider T, Wei X, Olcese R, Costantin JL, Neely A, Palade P, Perez-Reyes E, Qin N, Zhou J, Crawford GD, et al.: Molecular analysis and functional expression of the human type E neuronal Ca2+ channel alpha 1 subunit. Receptors Channels. 1994;2(4):255-70.[7536609 ]
  2. Williams ME, Marubio LM, Deal CR, Hans M, Brust PF, Philipson LH, Miller RJ, Johnson EC, Harpold MM, Ellis SB: Structure and functional characterization of neuronal alpha 1E calcium channel subtypes. J Biol Chem. 1994 Sep 2;269(35):22347-57.[8071363 ]
  3. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21.[16710414 ]
  4. Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K: Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet. 2004 Aug;36(8):842-9. Epub 2004 Jul 18.[15258581 ]
  5. 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.[18400181 ]

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