Human Metabolome Database: Showing Protein Voltage-dependent R-type calcium channel subunit alpha-1E (HMDBP07493)

Identification Biological properties Gene properties Protein properties External links References XML Show 1 metabolite

Identification

HMDB Protein ID

HMDBP07493

Secondary Accession Numbers

13201

Name

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

Synonyms

BII
Brain calcium channel II
Calcium channel, L type, alpha-1 polypeptide, isoform 6
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
macromolecular complex
voltage-gated calcium channel complex
calcium channel complex
cation channel complex
ion channel complex
integral to membrane
intrinsic to membrane
cell part
membrane part
protein complex
membrane
Function
cation channel activity
voltage-gated calcium channel activity
calcium channel activity
transporter activity
ion channel activity
ion transmembrane transporter activity
substrate-specific transmembrane transporter activity
transmembrane transporter activity
Process
transmembrane transport
transport
di-, tri-valent inorganic cation transport
divalent metal ion transport
calcium ion transport
cation transport
ion transport
establishment of localization

Cellular Location

Membrane
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

Ion_trans (PF00520 )
Ca_chan_IQ (PF08763 )

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

External Links

GenBank ID Protein

55957828

UniProtKB/Swiss-Prot ID

Q15878

UniProtKB/Swiss-Prot Entry Name

CAC1E_HUMAN

PDB IDs

Not Available

GenBank Gene ID

GeneCard ID

GenAtlas ID

HGNC ID

References

General References

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 ]
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 ]
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 ]
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 ]
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 ]