Voltage-dependent N-type calcium channel subunit alpha-1B

NameVoltage-dependent N-type calcium channel subunit alpha-1B
Synonyms
  • BIII
  • Brain calcium channel III
  • CACH5
  • CACNL1A5
  • Calcium channel, L type, alpha-1 polypeptide isoform 5
  • Voltage-gated calcium channel subunit alpha Cav2.2
Gene NameCACNA1B
OrganismHuman
Amino acid sequence
>lcl|BSEQ0004369|Voltage-dependent N-type calcium channel subunit alpha-1B
MVRFGDELGGRYGGPGGGERARGGGAGGAGGPGPGGLQPGQRVLYKQSIAQRARTMALYN
PIPVKQNCFTVNRSLFVFSEDNVVRKYAKRITEWPPFEYMILATIIANCIVLALEQHLPD
GDKTPMSERLDDTEPYFIGIFCFEAGIKIIALGFVFHKGSYLRNGWNVMDFVVVLTGILA
TAGTDFDLRTLRAVRVLRPLKLVSGIPSLQVVLKSIMKAMVPLLQIGLLLFFAILMFAII
GLEFYMGKFHKACFPNSTDAEPVGDFPCGKEAPARLCEGDTECREYWPGPNFGITNFDNI
LFAILTVFQCITMEGWTDILYNTNDAAGNTWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA
KERERVENRRAFLKLRRQQQIERELNGYLEWIFKAEEVMLAEEDRNAEEKSPLDVLKRAA
TKKSRNDLIHAEEGEDRFADLCAVGSPFARASLKSGKTESSSYFRRKEKMFRFFIRRMVK
AQSFYWVVLCVVALNTLCVAMVHYNQPRRLTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS
YFRSSFNCFDFGVIVGSVFEVVWAAIKPGSSFGISVLRALRLLRIFKVTKYWSSLRNLVV
SLLNSMKSIISLLFLLFLFIVVFALLGMQLFGGQFNFQDETPTTNFDTFPAAILTVFQIL
TGEDWNAVMYHGIESQGGVSKGMFSSFYFIVLTLFGNYTLLNVFLAIAVDNLANAQELTK
DEEEMEEAANQKLALQKAKEVAEVSPMSAANISIAARQQNSAKARSVWEQRASQLRLQNL
RASCEALYSEMDPEERLRFATTRHLRPDMKTHLDRPLVVELGRDGARGPVGGKARPEAAE
APEGVDPPRRHHRHRDKDKTPAAGDQDRAEAPKAESGEPGAREERPRPHRSHSKEAAGPP
EARSERGRGPGPEGGRRHHRRGSPEEAAEREPRRHRAHRHQDPSKECAGAKGERRARHRG
GPRAGPREAESGEEPARRHRARHKAQPAHEAVEKETTEKEATEKEAEIVEADKEKELRNH
QPREPHCDLETSGTVTVGPMHTLPSTCLQKVEEQPEDADNQRNVTRMGSQPPDPNTIVHI
PVMLTGPLGEATVVPSGNVDLESQAEGKKEVEADDVMRSGPRPIVPYSSMFCLSPTNLLR
RFCHYIVTMRYFEVVILVVIALSSIALAAEDPVRTDSPRNNALKYLDYIFTGVFTFEMVI
KMIDLGLLLHPGAYFRDLWNILDFIVVSGALVAFAFSGSKGKDINTIKSLRVLRVLRPLK
TIKRLPKLKAVFDCVVNSLKNVLNILIVYMLFMFIFAVIAVQLFKGKFFYCTDESKELER
DCRGQYLDYEKEEVEAQPRQWKKYDFHYDNVLWALLTLFTVSTGEGWPMVLKHSVDATYE
EQGPSPGYRMELSIFYVVYFVVFPFFFVNIFVALIIITFQEQGDKVMSECSLEKNERACI
DFAISAKPLTRYMPQNRQSFQYKTWTFVVSPPFEYFIMAMIALNTVVLMMKFYDAPYEYE
LMLKCLNIVFTSMFSMECVLKIIAFGVLNYFRDAWNVFDFVTVLGSITDILVTEIAETNN
FINLSFLRLFRAARLIKLLRQGYTIRILLWTFVQSFKALPYVCLLIAMLFFIYAIIGMQV
FGNIALDDDTSINRHNNFRTFLQALMLLFRSATGEAWHEIMLSCLSNQACDEQANATECG
SDFAYFYFVSFIFLCSFLMLNLFVAVIMDNFEYLTRDSSILGPHHLDEFIRVWAEYDPAA
CGRISYNDMFEMLKHMSPPLGLGKKCPARVAYKRLVRMNMPISNEDMTVHFTSTLMALIR
TALEIKLAPAGTKQHQCDAELRKEISVVWANLPQKTLDLLVPPHKPDEMTVGKVYAALMI
FDFYKQNKTTRDQMQQAPGGLSQMGPVSLFHPLKATLEQTQPAVLRGARVFLRQKSSTSL
SNGGAIQNQESGIKESVSWGTQRTQDAPHEARPPLERGHSTEIPVGRSGALAVDVQMQSI
TRRGPDGEPQPGLESQGRAASMPRLAAETQPVTDASPMKRSISTLAQRPRGTHLCSTTPD
RPPPSQASSHHHHHRCHRRRDRKQRSLEKGPSLSADMDGAPSSAVGPGLPPGEGPTGCRR
ERERRQERGRSQERRQPSSSSSEKQRFYSCDRFGGREPPKPKPSLSSHPTSPTAGQEPGP
HPQGSGSVNGSPLLSTSGASTPGRGGRRQLPQTPLTPRPSITYKTANSSPIHFAGAQTSL
PAFSPGRLSRGLSEHNALLQRDPLSQPLAPGSRIGSDPYLGQRLDSEASVHALPEDTLTF
EEAVATNSGRSSRTSYVSSLTSQSHPLRRVPNGYHCTLGLSSGGRARHSYHHPDQDHWC
Number of residues2339
Molecular Weight262493.84
Theoretical pI8.62
GO Classification
Functions
  • ATP binding
  • calcium ion binding
  • protein C-terminus binding
  • high voltage-gated calcium channel activity
  • voltage-gated calcium channel activity
Processes
  • response to pain
  • calcium ion import
  • synaptic transmission
  • neurotransmitter secretion
  • locomotory behavior
  • regulation of calcium ion transport
  • membrane depolarization
  • membrane depolarization during action potential
  • regulation of blood pressure
  • transport
  • regulation of heart contraction
Components
  • voltage-gated calcium channel complex
  • plasma membrane
  • dendrite
  • neuronal cell body
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-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by omega-conotoxin-GVIA (omega-CTx-GVIA) and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons.
Pfam Domain Function
Transmembrane Regions96-114 133-152 164-183 188-206 226-245 332-356 483-501 517-536 545-562 574-592 612-631 685-709 1152-1169 1186-1205 1218-1236 1247-1265 1285-1304 1392-1416 1472-1490 1506-1525 1534-1552 1564-1582 1602-1621 1684-1708
GenBank Protein ID179758
UniProtKB IDQ00975
UniProtKB Entry NameCAC1B_HUMAN
Cellular LocationMembrane
Gene sequence
>lcl|BSEQ0011606|Voltage-dependent N-type calcium channel subunit alpha-1B (CACNA1B)
ATGGTCCGCTTCGGGGACGAGCTGGGCGGCCGCTATGGGGGCCCCGGCGGCGGAGAGCGG
GCCCGGGGCGGCGGGGCCGGCGGGGCGGGGGGCCCGGGTCCCGGGGGGCTGCAGCCCGGC
CAGCGGGTCCTCTACAAGCAATCGATCGCGCAGCGCGCGCGGACCATGGCGCTGTACAAC
CCCATCCCGGTCAAGCAGAACTGCTTCACCGTCAACCGCTCGCTCTTCGTCTTCAGCGAG
GACAACGTCGTCCGCAAATACGCGAAGCGCATCACCGAGTGGCCTCCATTCGAGTATATG
ATCCTGGCCACCATCATCGCCAACTGCATCGTGCTGGCCCTGGAGCAGCACCTCCCTGAT
GGGGACAAAACGCCCATGTCCGAGCGGCTGGACGACACGGAGCCCTATTTCATCGGGATC
TTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTTTGTCTTCCACAAGGGCTCT
TACCTGCGGAACGGCTGGAACGTCATGGACTTCGTGGTCGTCCTCACAGGGATCCTTGCC
ACGGCTGGAACTGACTTCGACCTGCGAACACTGAGGGCTGTGCGTGTGCTGAGGCCCCTG
AAGCTGGTGTCTGGGATTCCAAGTTTGCAGGTGGTGCTCAAGTCCATCATGAAGGCCATG
GTTCCACTCCTGCAGATTGGGCTGCTTCTCTTCTTTGCCATCCTCATGTTTGCCATCATT
GGCCTGGAGTTCTACATGGGCAAGTTCCACAAGGCCTGTTTCCCCAACAGCACAGATGCG
GAGCCCGTGGGTGACTTCCCCTGTGGCAAGGAGGCCCCAGCCCGGCTGTGCGAGGGCGAC
ACTGAGTGCCGGGAGTACTGGCCAGGACCCAACTTTGGCATCACCAACTTTGACAATATC
CTGTTTGCCATCTTGACGGTGTTCCAGTGCATCACCATGGAGGGCTGGACTGACATCCTC
TATAATACAAACGATGCGGCCGGCAACACCTGGAACTGGCTCTACTTCATCCCTCTCATC
ATCATCGGCTCCTTCTTCATGCTCAACCTGGTGCTGGGCGTGCTCTCGGGGGAGTTTGCC
AAGGAGCGAGAGAGGGTGGAGAACCGCCGCGCCTTCCTGAAGCTGCGCCGGCAGCAGCAG
ATCGAGCGAGAGCTCAACGGGTACCTGGAGTGGATCTTCAAGGCGGAGGAAGTCATGCTG
GCCGAGGAGGACAGGAATGCAGAGGAGAAGTCCCCTTTGGACGTGCTGAAGAGAGCGGCC
ACCAAGAAGAGCAGAAATGACCTGATCCACGCAGAGGAGGGAGAGGACCGGTTTGCAGAT
CTCTGTGCTGTTGGATCCCCCTTCGCCCGCGCCAGCCTCAAGAGCGGGAAGACAGAGAGC
TCGTCATACTTCCGGAGGAAGGAGAAGATGTTCCGGTTTTTTATCCGGCGCATGGTGAAG
GCTCAGAGCTTCTACTGGGTGGTGCTGTGCGTGGTGGCCCTGAACACACTGTGTGTGGCC
ATGGTGCATTACAACCAGCCGCGGCGGCTTACCACGACCCTGTATTTTGCAGAGTTTGTT
TTCCTGGGTCTCTTCCTCACAGAGATGTCCCTGAAGATGTATGGCCTGGGGCCCAGAAGC
TACTTCCGGTCCTCCTTCAACTGCTTCGACTTTGGGGTCATCGTGGGGAGCGTCTTTGAA
GTGGTCTGGGCGGCCATCAAGCCGGGAAGCTCCTTTGGGATCAGTGTGCTGCGGGCCCTC
CGCCTGCTGAGGATCTTCAAAGTCACGAAGTACTGGAGCTCCCTGCGGAACCTGGTGGTG
TCCCTGCTGAACTCCATGAAGTCCATCATCAGCCTGCTCTTCTTGCTCTTCCTGTTCATT
GTGGTCTTCGCCCTGCTGGGGATGCAGCTGTTTGGGGGACAGTTCAACTTCCAGGATGAG
ACTCCCACAACCAACTTCGACACCTTCCCTGCCGCCATCCTCACTGTCTTCCAGATCCTG
ACGGGAGAGGACTGGAATGCAGTGATGTATCACGGGATCGAATCGCAAGGCGGCGTCAGC
AAAGGCATGTTCTCGTCCTTTTACTTCATTGTCCTGACACTGTTCGGAAACTACACTCTG
CTGAATGTCTTTCTGGCCATCGCTGTGGACAACCTGGCCAACGCCCAAGAGCTGACCAAG
GATGAAGAGGAGATGGAAGAAGCAGCCAATCAGAAGCTTGCTCTGCAAAAGGCCAAAGAA
GTGGCTGAAGTCAGCCCCATGTCTGCCGCGAACATCTCCATCGCCGCCAGGCAGCAGAAC
TCGGCCAAGGCGCGCTCGGTGTGGGAGCAGCGGGCCAGCCAGCTACGGCTGCAGAACCTG
CGGGCCAGCTGCGAGGCGCTGTACAGCGAGATGGACCCCGAGGAGCGGCTGCGCTTCGCC
ACTACGCGCCACCTGCGGCCCGACATGAAGACGCACCTGGACCGGCCGCTGGTGGTGGAG
CTGGGCCGCGACGGCGCGCGGGGGCCCGTGGGAGGCAAAGCCCGACCTGAGGCTGCGGAG
GCCCCCGAGGGCGTCGACCCTCCGCGCAGGCACCACCGGCACCGCGACAAGGACAAGACC
CCCGCGGCGGGGGACCAGGACCGAGCAGAGGCCCCGAAGGCGGAGAGCGGGGAGCCCGGT
GCCCGGGAGGAGCGGCCGCGGCCGCACCGCAGCCACAGCAAGGAGGCCGCGGGGCCCCCG
GAGGCGCGGAGCGAGCGCGGCCGAGGCCCAGGCCCCGAGGGCGGCCGGCGGCACCACCGG
CGCGGCTCCCCGGAGGAGGCGGCCGAGCGGGAGCCCCGACGCCACCGCGCGCACCGGCAC
CAGGATCCGAGCAAGGAGTGCGCCGGCGCCAAGGGCGAGCGGCGCGCGCGGCACCGCGGC
GGCCCCCGAGCGGGGCCCCGGGAGGCGGAGAGCGGGGAGGAGCCGGCGCGGCGGCACCGG
GCCCGGCACAAGGCGCAGCCTGCTCACGAGGCTGTGGAGAAGGAGACCACGGAGAAGGAG
GCCACGGAGAAGGAGGCTGAGATAGTGGAAGCCGACAAGGAAAAGGAGCTCCGGAACCAC
CAGCCCCGGGAGCCACACTGTGACCTGGAGACCAGTGGGACTGTGACTGTGGGTCCCATG
CACACACTGCCCAGCACCTGTCTCCAGAAGGTGGAGGAACAGCCAGAGGATGCAGACAAT
CAGCGGAACGTCACTCGCATGGGCAGTCAGCCCCCAGACCCGAACACTATTGTACATATC
CCAGTGATGCTGACGGGCCCTCTTGGGGAAGCCACGGTCGTTCCCAGTGGTAACGTGGAC
CTGGAAAGCCAAGCAGAGGGGAAGAAGGAGGTGGAAGCGGATGACGTGATGAGGAGCGGC
CCCCGGCCTATCGTCCCATACAGCTCCATGTTCTGTTTAAGCCCCACCAACCTGCTCCGC
CGCTTCTGCCACTACATCGTGACCATGAGGTACTTCGAGGTGGTCATTCTCGTGGTCATC
GCCTTGAGCAGCATCGCCCTGGCTGCTGAGGACCCAGTGCGCACAGACTCGCCCAGGAAC
AACGCTCTGAAATACCTGGATTACATTTTCACTGGTGTCTTTACCTTTGAGATGGTGATA
AAGATGATCGACTTGGGACTGCTGCTTCACCCTGGAGCCTATTTCCGGGACTTGTGGAAC
ATTCTGGACTTCATTGTGGTCAGTGGCGCCCTGGTGGCGTTTGCTTTCTCAGGATCCAAA
GGGAAAGACATCAATACCATCAAGTCTCTGAGAGTCCTTCGTGTCCTGCGGCCCCTCAAG
ACCATCAAACGGCTGCCCAAGCTCAAGGCTGTGTTTGACTGTGTGGTGAACTCCCTGAAG
AATGTCCTCAACATCTTGATTGTCTACATGCTCTTCATGTTCATATTTGCCGTCATTGCG
GTGCAGCTCTTCAAAGGGAAGTTTTTCTACTGCACAGATGAATCCAAGGAGCTGGAGAGG
GACTGCAGGGGTCAGTATTTGGATTATGAGAAGGAGGAAGTGGAAGCTCAGCCCAGGCAG
TGGAAGAAATACGACTTTCACTACGACAATGTGCTCTGGGCTCTGCTGACGCTGTTCACA
GTGTCCACGGGAGAAGGCTGGCCCATGGTGCTGAAACACTCCGTGGATGCCACCTATGAG
GAGCAGGGTCCAAGCCCTGGGTACCGCATGGAGCTGTCCATCTTCTACGTGGTCTACTTT
GTGGTCTTTCCCTTCTTCTTCGTCAACATCTTTGTGGCTTTGATCATCATCACCTTCCAG
GAGCAGGGGGACAAGGTGATGTCTGAATGCAGCCTGGAGAAGAACGAGAGGGCTTGCATT
GACTTCGCCATCAGCGCCAAACCCCTGACACGGTACATGCCCCAAAACCGGCAGTCGTTC
CAGTATAAGACGTGGACATTTGTGGTCTCCCCGCCCTTTGAATACTTCATCATGGCCATG
ATAGCCCTCAACACTGTGGTGCTGATGATGAAGTTCTATGATGCACCCTATGAGTACGAG
CTGATGCTGAAATGCCTGAACATCGTGTTCACATCCATGTTCTCCATGGAATGCGTGCTG
AAGATCATCGCCTTTGGGGTGCTGAACTATTTCAGAGATGCCTGGAATGTCTTTGACTTT
GTCACTGTGTTGGGAAGTATTACTGATATTTTAGTAACAGAGATTGCGGAAACGAACAAT
TTCATCAACCTCAGCTTCCTCCGCCTCTTTCGAGCTGCGCGGCTGATCAAGCTGCTCCGC
CAGGGCTACACCATCCGCATCCTGCTGTGGACCTTTGTCCAGTCCTTCAAGGCCCTGCCC
TACGTGTGTCTGCTCATTGCCATGCTGTTCTTCATCTACGCCATCATCGGCATGCAGGTG
TTTGGGAATATTGCCCTGGATGATGACACCAGCATCAACCGCCACAACAACTTCCGGACG
TTTTTGCAAGCCCTGATGCTGCTGTTCAGGAGCGCCACGGGGGAGGCCTGGCACGAGATC
ATGCTGTCCTGCCTGAGCAACCAGGCCTGTGATGAGCAGGCCAATGCCACCGAGTGTGGA
AGTGACTTTGCCTACTTCTACTTCGTCTCCTTCATCTTCCTGTGCTCCTTTCTGATGTTG
AACCTCTTTGTGGCTGTGATCATGGACAATTTTGAGTACCTCACGCGGGACTCTTCCATC
CTAGGTCCTCACCACTTGGATGAGTTCATCCGGGTCTGGGCTGAATACGACCCGGCTGCG
TGTGGGCGCATCAGTTACAATGACATGTTTGAGATGCTGAAACACATGTCCCCGCCTCTG
GGGCTGGGGAAGAAATGCCCTGCTCGAGTTGCTTACAAGCGCCTGGTTCGCATGAACATG
CCCATCTCCAACGAGGACATGACTGTTCACTTCACGTCCACGCTGATGGCCCTCATCCGG
ACGGCACTGGAGATCAAGCTGGCCCCAGCTGGGACAAAGCAGCATCAGTGTGACGCGGAG
TTGAGGAAGGAGATTTCCGTTGTGTGGGCCAATCTGCCCCAGAAGACTTTGGACTTGCTG
GTACCACCCCATAAGCCTGATGAGATGACAGTGGGGAAGGTTTATGCAGCTCTGATGATA
TTCGACTTCTACAAGCAGAACAAAACCACCAGAGACCAGATGCAGCAGGCTCCTGGAGGC
CTCTCCCAGATGGGTCCTGTGTCCCTGTTCCACCCTCTGAAGGCCACCCTGGAGCAGACA
CAGCCGGCTGTGCTCCGAGGAGCCCGGGTTTTCCTTCGACAGAAGAGTTCCACCTCCCTC
AGCAATGGCGGGGCCATACAAAACCAAGAGAGTGGCATCAAAGAGTCTGTCTCCTGGGGC
ACTCAAAGGACCCAGGATGCACCCCATGAGGCCAGGCCACCCCTGGAGCGTGGCCACTCC
ACAGAGATCCCTGTGGGGCGGTCAGGAGCACTGGCTGTGGACGTTCAGATGCAGAGCATA
ACCCGGAGGGGCCCTGATGGGGAGCCCCAGCCTGGGCTGGAGAGCCAGGGTCGAGCGGCC
TCCATGCCCCGCCTTGCGGCCGAGACTCAGCCCGTCACAGATGCCAGCCCCATGAAGCGC
TCCATCTCCACGCTGGCCCAGCGGCCCCGTGGGACTCATCTTTGCAGCACCACCCCGGAC
CGCCCACCCCCTAGCCAGGCGTCGTCGCACCACCACCACCACCGCTGCCACCGCCGCAGG
GACAGGAAGCAGAGGTCCCTGGAGAAGGGGCCCAGCCTGTCTGCCGATATGGATGGCGCA
CCAAGCAGTGCTGTGGGGCCGGGGCTGCCCCCGGGAGAGGGGCCTACAGGCTGCCGGCGG
GAACGAGAGCGCCGGCAGGAGCGGGGCCGGTCCCAGGAGCGGAGGCAGCCCTCATCCTCC
TCCTCGGAGAAGCAGCGCTTCTACTCCTGCGACCGCTTTGGGGGCCGTGAGCCCCCGAAG
CCCAAGCCCTCCCTCAGCAGCCACCCAACGTCGCCAACAGCTGGCCAGGAGCCGGGACCC
CACCCACAGGGCAGTGGTTCCGTGAATGGGAGCCCCTTGCTGTCAACATCTGGTGCTAGC
ACCCCCGGCCGCGGTGGGCGGAGGCAGCTCCCCCAGACGCCCCTGACTCCCCGCCCCAGC
ATCACCTACAAGACGGCCAACTCCTCACCCATCCACTTCGCCGGGGCTCAGACCAGCCTC
CCTGCCTTCTCCCCAGGCCGGCTCAGCCGTGGGCTTTCCGAACACAACGCCCTGCTGCAG
AGAGACCCCCTCAGCCAGCCCCTGGCCCCTGGCTCTCGAATTGGCTCTGACCCTTACCTG
GGGCAGCGTCTGGACAGTGAGGCCTCTGTCCACGCCCTGCCTGAGGACACTCTCACTTTC
GAGGAGGCTGTGGCCACCAACTCGGGCCGCTCCTCCAGGACTTCCTACGTGTCCTCCCTG
ACCTCCCAGTCTCACCCTCTCCGCCGCGTGCCCAACGGTTACCACTGCACCCTGGGACTC
AGCTCGGGTGGCCGAGCACGGCACAGCTACCACCACCCTGACCAAGACCACTGGTGCTAG
GenBank Gene IDM94172
GeneCard IDNot Available
GenAtlas IDCACNA1B
HGNC IDHGNC:1389
Chromosome Location9
Locus9q34
References
  1. Williams ME, Brust PF, Feldman DH, Patthi S, Simerson S, Maroufi A, McCue AF, Velicelebi G, Ellis SB, Harpold MM: Structure and functional expression of an omega-conotoxin-sensitive human N-type calcium channel. Science. 1992 Jul 17;257(5068):389-95. 1321501
  2. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. 15164053
  3. Kim DS, Jung HH, Park SH, Chin H: Isolation and characterization of the 5'-upstream region of the human N-type calcium channel alpha1B subunit gene. Chromosomal localization and promoter analysis. J Biol Chem. 1997 Feb 21;272(8):5098-104. 9030575
  4. Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TE, Jongejan A, Verbeek DS, Nurnberg P, Denome S, Hennekam RC, Lipscombe D, Baas F, Tijssen MA: CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum Mol Genet. 2015 Feb 15;24(4):987-93. doi: 10.1093/hmg/ddu513. Epub 2014 Oct 8. 25296916