CACNB1 explained

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.^{[1] [2]}

The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified.^[3]

Mutations in CACNB1 are known to cause the following conditions: Malignant Hyperthermia; Congenital Myopathy; Alzheimer's Disease; Autism Spectrum Disorder.^[4]

See also

• Voltage-dependent calcium channel

Further reading

• Williams ME, Feldman DH, McCue AF, Brenner R, Velicelebi G, Ellis SB, Harpold MM . Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype . Neuron . 8 . 1 . 71–84 . January 1992 . 1309651 . 10.1016/0896-6273(92)90109-Q . 39341712 .
• Perez-Reyes E, Castellano A, Kim HS, Bertrand P, Baggstrom E, Lacerda AE, Wei XY, Birnbaumer L . Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel . The Journal of Biological Chemistry . 267 . 3 . 1792–1797 . January 1992 . 1370480 . 10.1016/S0021-9258(18)46015-2 . free .
• Powers PA, Liu S, Hogan K, Gregg RG . Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene . The Journal of Biological Chemistry . 267 . 32 . 22967–22972 . November 1992 . 1385409 . 10.1016/S0021-9258(18)50042-9 . free .
• Pragnell M, Sakamoto J, Jay SD, Campbell KP . Cloning and tissue-specific expression of the brain calcium channel beta-subunit . FEBS Letters . 291 . 2 . 253–258 . October 1991 . 1657644 . 10.1016/0014-5793(91)81296-K . 84984587 . free . 1991FEBSL.291..253P .
• Collin T, Wang JJ, Nargeot J, Schwartz A . Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart . Circulation Research . 72 . 6 . 1337–1344 . June 1993 . 7916667 . 10.1161/01.res.72.6.1337 . free .
• Fukuda K, Kaneko S, Yada N, Kikuwaka M, Akaike A, Satoh M . Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes . Neuroscience Letters . 217 . 1 . 13–16 . October 1996 . 8905728 . 10.1016/0304-3940(96)13055-X . 40498858 .
• Gregg RG, Messing A, Strube C, Beurg M, Moss R, Behan M, Sukhareva M, Haynes S, Powell JA, Coronado R, Powers PA . Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha 1 subunit and eliminates excitation-contraction coupling . Proceedings of the National Academy of Sciences of the United States of America . 93 . 24 . 13961–13966 . November 1996 . 8943043 . 19477 . 10.1073/pnas.93.24.13961 . free .
• Brice NL, Dolphin AC . Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line . The Journal of Physiology . 515 . Pt 3 . 685–694 . March 1999 . 10066897 . 2269176 . 10.1111/j.1469-7793.1999.685ab.x .
• Lie AA, Blümcke I, Volsen SG, Wiestler OD, Elger CE, Beck H . Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy . Neuroscience . 93 . 2 . 449–456 . 1999 . 10465427 . 10.1016/S0306-4522(99)00162-1 . 12890647 .
• Hogan K, Greg RG, Powers PA . Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels . Neuroscience Letters . 277 . 2 . 111–114 . December 1999 . 10624822 . 10.1016/S0304-3940(99)00851-4 . 32210526 .
• Finlin BS, Crump SM, Satin J, Andres DA . Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases . Proceedings of the National Academy of Sciences of the United States of America . 100 . 24 . 14469–14474 . November 2003 . 14623965 . 283615 . 10.1073/pnas.2437756100 . free . 2003PNAS..10014469F .
• Navarro-Lérida I, Martínez Moreno M, Roncal F, Gavilanes F, Albar JP, Rodríguez-Crespo I . Proteomic identification of brain proteins that interact with dynein light chain LC8 . Proteomics . 4 . 2 . 339–346 . February 2004 . 14760703 . 10.1002/pmic.200300528 . 8868600 .
• Foell JD, Balijepalli RC, Delisle BP, Yunker AM, Robia SL, Walker JW, McEnery MW, January CT, Kamp TJ . Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization . Physiological Genomics . 17 . 2 . 183–200 . April 2004 . 14762176 . 10.1152/physiolgenomics.00207.2003 . 38889757 .
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY . A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration . Cell . 125 . 4 . 801–814 . May 2006 . 16713569 . 10.1016/j.cell.2006.03.032 . 13709685 . free .
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks . Cell . 127 . 3 . 635–648 . November 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .

Notes and References

1. Gregg RG, Powers PA, Hogan K . Assignment of the human gene for the beta subunit of the voltage-dependent calcium channel (CACNLB1) to chromosome 17 using somatic cell hybrids and linkage mapping . Genomics . 15 . 1 . 185–187 . January 1993 . 8381767 . 10.1006/geno.1993.1029 .
2. Iles DE, Segers B, Sengers RC, Monsieurs K, Heytens L, Halsall PJ, Hopkins PM, Ellis FR, Hall-Curran JL, Stewart AD . Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility . Human Molecular Genetics . 2 . 7 . 863–868 . July 1993 . 8395940 . 10.1093/hmg/2.7.863 .
3. Web site: Entrez Gene . CACNB1 calcium channel, voltage-dependent, beta 1 subunit .
4. Web site: CACNB1 Gene: Diseases . GeneCards .