Biology:CACNB1

Short description: Protein-coding gene in humans

Generic protein structure example

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene.

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.

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

See also

• Voltage-dependent calcium channel

Further reading

• "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. doi:10.1016/0896-6273(92)90109-Q. PMID 1309651. 
• "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. doi:10.1016/S0021-9258(18)46015-2. PMID 1370480. 
• "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. doi:10.1016/S0021-9258(18)50042-9. PMID 1385409. 
• "Cloning and tissue-specific expression of the brain calcium channel beta-subunit". FEBS Letters 291 (2): 253–258. October 1991. doi:10.1016/0014-5793(91)81296-K. PMID 1657644. Bibcode: 1991FEBSL.291..253P. 
• "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. doi:10.1161/01.res.72.6.1337. PMID 7916667. 
• "Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes". Neuroscience Letters 217 (1): 13–16. October 1996. doi:10.1016/0304-3940(96)13055-X. PMID 8905728. 
• "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. doi:10.1073/pnas.93.24.13961. PMID 8943043. 
• "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. doi:10.1111/j.1469-7793.1999.685ab.x. PMID 10066897. 
• "Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy". Neuroscience 93 (2): 449–456. 1999. doi:10.1016/S0306-4522(99)00162-1. PMID 10465427. 
• "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. doi:10.1016/S0304-3940(99)00851-4. PMID 10624822. 
• "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. doi:10.1073/pnas.2437756100. PMID 14623965. Bibcode: 2003PNAS..10014469F. 
• "Proteomic identification of brain proteins that interact with dynein light chain LC8". Proteomics 4 (2): 339–346. February 2004. doi:10.1002/pmic.200300528. PMID 14760703. 
• "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. doi:10.1152/physiolgenomics.00207.2003. PMID 14762176. 
• "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell 125 (4): 801–814. May 2006. doi:10.1016/j.cell.2006.03.032. PMID 16713569. 
• "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–648. November 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983. 

External links

• CACNB1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Human CACNB1 genome location and CACNB1 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.