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CACNB1

{{Short description|Protein-coding gene in humans}}

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Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.{{cite journal | vauthors = Gregg RG, Powers PA, Hogan K | title = 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 | journal = Genomics | volume = 15 | issue = 1 | pages = 185–187 | date = January 1993 | pmid = 8381767 | doi = 10.1006/geno.1993.1029 }}{{cite journal | vauthors = Iles DE, Segers B, Sengers RC, Monsieurs K, Heytens L, Halsall PJ, Hopkins PM, Ellis FR, Hall-Curran JL, Stewart AD | title = 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 | journal = Human Molecular Genetics | volume = 2 | issue = 7 | pages = 863–868 | date = July 1993 | pmid = 8395940 | doi = 10.1093/hmg/2.7.863 }}

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.{{cite web | work = Entrez Gene | title = CACNB1 calcium channel, voltage-dependent, beta 1 subunit | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=782}}

Mutations in CACNB1 are known to cause the following conditions: Malignant Hyperthermia; Congenital Myopathy; Alzheimer's Disease; Autism Spectrum Disorder.{{cite web | title = CACNB1 Gene: Diseases | url = https://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNB1#diseases | work = GeneCards }}

See also

References

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Further reading

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  • {{cite journal | vauthors = Williams ME, Feldman DH, McCue AF, Brenner R, Velicelebi G, Ellis SB, Harpold MM | title = Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype | journal = Neuron | volume = 8 | issue = 1 | pages = 71–84 | date = January 1992 | pmid = 1309651 | doi = 10.1016/0896-6273(92)90109-Q | s2cid = 39341712 }}
  • {{cite journal | vauthors = Perez-Reyes E, Castellano A, Kim HS, Bertrand P, Baggstrom E, Lacerda AE, Wei XY, Birnbaumer L | title = Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel | journal = The Journal of Biological Chemistry | volume = 267 | issue = 3 | pages = 1792–1797 | date = January 1992 | pmid = 1370480 | doi = 10.1016/S0021-9258(18)46015-2 | doi-access = free }}
  • {{cite journal | vauthors = Powers PA, Liu S, Hogan K, Gregg RG | title = Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene | journal = The Journal of Biological Chemistry | volume = 267 | issue = 32 | pages = 22967–22972 | date = November 1992 | pmid = 1385409 | doi = 10.1016/S0021-9258(18)50042-9 | doi-access = free }}
  • {{cite journal | vauthors = Pragnell M, Sakamoto J, Jay SD, Campbell KP | title = Cloning and tissue-specific expression of the brain calcium channel beta-subunit | journal = FEBS Letters | volume = 291 | issue = 2 | pages = 253–258 | date = October 1991 | pmid = 1657644 | doi = 10.1016/0014-5793(91)81296-K | s2cid = 84984587 | doi-access = free | bibcode = 1991FEBSL.291..253P }}
  • {{cite journal | vauthors = Collin T, Wang JJ, Nargeot J, Schwartz A | title = Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart | journal = Circulation Research | volume = 72 | issue = 6 | pages = 1337–1344 | date = June 1993 | pmid = 7916667 | doi = 10.1161/01.res.72.6.1337 | doi-access = free }}
  • {{cite journal | vauthors = Fukuda K, Kaneko S, Yada N, Kikuwaka M, Akaike A, Satoh M | title = Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes | journal = Neuroscience Letters | volume = 217 | issue = 1 | pages = 13–16 | date = October 1996 | pmid = 8905728 | doi = 10.1016/0304-3940(96)13055-X | s2cid = 40498858 }}
  • {{cite journal | vauthors = Gregg RG, Messing A, Strube C, Beurg M, Moss R, Behan M, Sukhareva M, Haynes S, Powell JA, Coronado R, Powers PA | title = Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha 1 subunit and eliminates excitation-contraction coupling | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 93 | issue = 24 | pages = 13961–13966 | date = November 1996 | pmid = 8943043 | pmc = 19477 | doi = 10.1073/pnas.93.24.13961 | doi-access = free }}
  • {{cite journal | vauthors = Brice NL, Dolphin AC | title = Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line | journal = The Journal of Physiology | volume = 515 | issue = Pt 3 | pages = 685–694 | date = March 1999 | pmid = 10066897 | pmc = 2269176 | doi = 10.1111/j.1469-7793.1999.685ab.x }}
  • {{cite journal | vauthors = Lie AA, Blümcke I, Volsen SG, Wiestler OD, Elger CE, Beck H | title = Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy | journal = Neuroscience | volume = 93 | issue = 2 | pages = 449–456 | year = 1999 | pmid = 10465427 | doi = 10.1016/S0306-4522(99)00162-1 | s2cid = 12890647 }}
  • {{cite journal | vauthors = Hogan K, Greg RG, Powers PA | title = Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels | journal = Neuroscience Letters | volume = 277 | issue = 2 | pages = 111–114 | date = December 1999 | pmid = 10624822 | doi = 10.1016/S0304-3940(99)00851-4 | s2cid = 32210526 }}
  • {{cite journal | vauthors = Finlin BS, Crump SM, Satin J, Andres DA | title = Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 100 | issue = 24 | pages = 14469–14474 | date = November 2003 | pmid = 14623965 | pmc = 283615 | doi = 10.1073/pnas.2437756100 | doi-access = free | bibcode = 2003PNAS..10014469F }}
  • {{cite journal | vauthors = Navarro-Lérida I, Martínez Moreno M, Roncal F, Gavilanes F, Albar JP, Rodríguez-Crespo I | title = Proteomic identification of brain proteins that interact with dynein light chain LC8 | journal = Proteomics | volume = 4 | issue = 2 | pages = 339–346 | date = February 2004 | pmid = 14760703 | doi = 10.1002/pmic.200300528 | s2cid = 8868600 }}
  • {{cite journal | vauthors = Foell JD, Balijepalli RC, Delisle BP, Yunker AM, Robia SL, Walker JW, McEnery MW, January CT, Kamp TJ | title = Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization | journal = Physiological Genomics | volume = 17 | issue = 2 | pages = 183–200 | date = April 2004 | pmid = 14762176 | doi = 10.1152/physiolgenomics.00207.2003 | s2cid = 38889757 }}
  • {{cite journal | vauthors = 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 | title = A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration | journal = Cell | volume = 125 | issue = 4 | pages = 801–814 | date = May 2006 | pmid = 16713569 | doi = 10.1016/j.cell.2006.03.032 | s2cid = 13709685 | doi-access = free }}
  • {{cite journal | vauthors = Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M | title = Global, in vivo, and site-specific phosphorylation dynamics in signaling networks | journal = Cell | volume = 127 | issue = 3 | pages = 635–648 | date = November 2006 | pmid = 17081983 | doi = 10.1016/j.cell.2006.09.026 | s2cid = 7827573 | doi-access = free }}

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External links

  • {{MeshName|CACNB1+protein,+human}}
  • {{UCSC gene info|CACNB1}}

{{PDB Gallery|geneid=782}}

{{Ion channels|g1}}

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Category:Ion channels

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