T3DB: Voltage-dependent R-type calcium channel subunit alpha-1E

Name	Voltage-dependent R-type calcium channel subunit alpha-1E
Synonyms	BII Brain calcium channel II CACH6 CACNL1A6 Calcium channel, L type, alpha-1 polypeptide, isoform 6 Voltage-gated calcium channel subunit alpha Cav2.3
Gene Name	CACNA1E
Organism	Human
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 residues	2313
Molecular Weight	261729.05
Theoretical pI	Not Available
GO Classification	Functions voltage-gated calcium channel activity high voltage-gated calcium channel activity calcium ion binding Processes glucose homeostasis energy reserve metabolic process regulation of insulin secretion locomotory behavior sensory perception of pain sperm motility membrane depolarization membrane depolarization during action potential transport regulation of heart rate visual learning behavioral response to pain calcium ion import transmission of nerve impulse behavioral fear response synaptic transmission regulation of insulin secretion involved in cellular response to glucose stimulus regulation of somatostatin secretion small molecule metabolic process Components voltage-gated calcium channel complex plasma membrane
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-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.
Pfam Domain Function	Ion_trans (PF00520 ) Ca_chan_IQ (PF08763 ) GPHH (PF16905 )
Transmembrane Regions	90-108 128-146 159-173 186-205 224-244 327-350 477-496 510-529 539-557 568-586 606-625 679-703 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	Not Available
UniProtKB ID	Q15878
UniProtKB Entry Name	CAC1E_HUMAN
Cellular Location	Membrane
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	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:1392
Chromosome Location	1
Locus	Not Available
References	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 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 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 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 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