Hmdb loader
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Identification
HMDB Protein ID HMDBP07493
Secondary Accession Numbers
  • 13201
Name Voltage-dependent R-type calcium channel subunit alpha-1E
Synonyms
  1. BII
  2. Brain calcium channel II
  3. Calcium channel, L type, alpha-1 polypeptide, isoform 6
  4. Voltage-gated calcium channel subunit alpha Cav2.3
Gene Name CACNA1E
Protein Type Unknown
Biological Properties
General Function Involved in ion 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 contaning alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
membrane part
ion channel complex
cation channel complex
macromolecular complex
intrinsic to membrane
protein complex
integral to membrane
calcium channel complex
voltage-gated calcium channel complex
Function
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
transporter activity
ion channel activity
cation channel activity
calcium channel activity
voltage-gated calcium channel activity
Process
di-, tri-valent inorganic cation transport
divalent metal ion transport
calcium ion transport
establishment of localization
transport
transmembrane transport
ion transport
cation transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:1
Locus 1q25-q31
SNPs CACNA1E
Gene Sequence
>6942 bp
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
CAAGAACGGCAGTCTCTGGAGCCAGAGGTTAGTGAATTAAAAAGCGTGCAGCCCTCTAAC
CATGGCATCTACCTTCCTTCGGACACCCAGGAGCATGCGGGATCTGGGAGGGCATCTTCT
ATGCCACGTCTGACTGTGGATCCCCAGGTGGTGACAGACCCTAGCTCCATGAGACGTTCA
TTTTCCACTATTCGGGATAAGCGTTCAAATTCCTCGTGGTTGGAGGAATTCTCCATGGAG
CGAAGCAGTGAAAATACCTACAAGTCCCGTCGCCGGAGTTACCACTCCTCCTTGCGGCTG
TCAGCCCACCGCCTGAACTCTGATTCAGGCCACAAGTCTGACACTCACCGCTCAGGGGGC
AGGGAGCGGGGACGATCAAAAGAGCGAAAGCATCTTCTCTCTCCTGATGTCTCCCGCTGC
AATTCAGAAGAGCGAGGGACCCAGGCTGACTGGGAGTCCCCAGAGCGCCGTCAATCCAGG
TCACCCAGTGAGGGCAGGTCACAGACGCCCAACAGACAGGGCACAGGTTCCCTAAGTGAG
AGCTCCATCCCCTCTGTCTCTGACACCAGCACCCCAAGAAGAAGTCGTCGGCAGCTCCCA
CCCGTCCCGCCAAAGCCCCGGCCCCTCCTTTCCTACAGCTCCCTGATTCGACACGCGGGC
AGCATCTCTCCACCTGCTGATGGAAGCGAGGAGGGCTCCCCGCTGACCTCCCAAGCTCTG
GAGAGCAACAATGCTTGCCTGACCGAGTCTTCCAACTCTCCGCACCCCCAGCAGAGCCAA
CATGCCTCCCCACAGCGCTACATCTCCGAGCCCTACTTGGCCCTGCACGAAGACTCCCAC
GCCTCAGACTGTGGTGAGGAGGAGACGCTCACTTTCGAAGCAGCCGTGGCTACTAGCCTG
GGCCGTTCCAACACCATCGGCTCAGCCCCACCCCTGCGGCATAGCTGGCAGATGCCCAAC
GGGCACTATCGGCGGCGGAGGCGCGGGGGGCCTGGGCCAGGCATGATGTGTGGGGCTGTC
AACAACCTGCTAAGTGACACGGAAGAAGATGACAAATGCTAG
Protein Properties
Number of Residues 2313
Molecular Weight 261729.0
Theoretical pI 8.31
Pfam Domain Function
Signals
  • None
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
Protein Sequence
>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
GenBank ID Protein 55957828
UniProtKB/Swiss-Prot ID Q15878
UniProtKB/Swiss-Prot Entry Name CAC1E_HUMAN
PDB IDs Not Available
GenBank Gene ID AL160059
GeneCard ID CACNA1E
GenAtlas ID CACNA1E
HGNC ID HGNC:1392
References
General References
  1. 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. [PubMed:16710414 ]
  2. 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 ]
  3. 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. [PubMed:7536609 ]
  4. 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. [PubMed:8071363 ]
  5. 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. [PubMed:15258581 ]