CACNB1

CACNB1
Identifiers
Aliases	CACNB1 , CAB1, CACNLB1, CCHLB1, calcium voltage-gated channel auxiliary subunit beta 1
External IDs	OMIM: 114207; MGI: 102522; HomoloGene: 20186; GeneCards: CACNB1; OMA:CACNB1 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q12 Start 39,173,453 bp [1] End 39,197,703 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 D|11 61.5 cM Start 97,892,334 bp [2] End 97,913,860 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh triceps brachii muscle glutes vastus lateralis muscle Skeletal muscle tissue of rectus abdominis Skeletal muscle tissue of biceps brachii thoracic diaphragm Brodmann area 10 deltoid muscle Top expressed in triceps brachii muscle muscle of thigh temporal muscle sternocleidomastoid muscle skeletal muscle tissue superior frontal gyrus vastus lateralis muscle primary visual cortex digastric muscle extraocular muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium channel activity voltage-gated calcium channel activity voltage-gated ion channel activity high voltage-gated calcium channel activity Cellular component membrane plasma membrane sarcolemma voltage-gated calcium channel complex Biological process regulation of ion transmembrane transport cardiac conduction regulation of voltage-gated calcium channel activity neuromuscular junction development ion transport calcium ion transmembrane transport calcium ion transport transport chemical synaptic transmission regulation of calcium ion transmembrane transport via high voltage-gated calcium channel cellular response to amyloid-beta Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 782 12295 Ensembl ENSG00000067191 ENSMUSG00000020882 UniProt Q02641 Q8R3Z5 RefSeq (mRNA) NM_000723 NM_199247 NM_199248 NM_001159319 NM_001159320 NM_001282977 NM_001282978 NM_031173 NM_145121 RefSeq (protein) NP_000714 NP_954855 NP_954856 NP_001152791 NP_001152792 NP_001269906 NP_001269907 NP_112450 NP_660099 Location (UCSC) Chr 17: 39.17 – 39.2 Mb Chr 11: 97.89 – 97.91 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene. ^{[5] [6] [7]}

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. ^[7]

Mutations in CACNB1 are known to cause the following conditions: Malignant Hyperthermia; Congenital Myopathy; Alzheimer's Disease; Autism Spectrum Disorder. ^[8]

See also

• Voltage-dependent calcium channel

References

1. GRCh38: Ensembl release 89: ENSG00000067191 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020882 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Gregg RG, Powers PA, Hogan K (January 1993). "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. doi:10.1006/geno.1993.1029. PMID   8381767.
6. Iles DE, Segers B, Sengers RC, Monsieurs K, Heytens L, Halsall PJ, et al. (July 1993). "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. doi:10.1093/hmg/2.7.863. PMID   8395940.
7. "CACNB1 calcium channel, voltage-dependent, beta 1 subunit". Entrez Gene.
8. "CACNB1 Gene: Diseases". GeneCards.

Further reading

• Williams ME, Feldman DH, McCue AF, Brenner R, Velicelebi G, Ellis SB, et al. (January 1992). "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. doi:10.1016/0896-6273(92)90109-Q. PMID   1309651. S2CID   39341712.
• Perez-Reyes E, Castellano A, Kim HS, Bertrand P, Baggstrom E, Lacerda AE, et al. (January 1992). "Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel". The Journal of Biological Chemistry. 267 (3): 1792–1797. doi: 10.1016/S0021-9258(18)46015-2 . PMID   1370480.
• Powers PA, Liu S, Hogan K, Gregg RG (November 1992). "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. doi: 10.1016/S0021-9258(18)50042-9 . PMID   1385409.
• Pragnell M, Sakamoto J, Jay SD, Campbell KP (October 1991). "Cloning and tissue-specific expression of the brain calcium channel beta-subunit". FEBS Letters. 291 (2): 253–258. Bibcode:1991FEBSL.291..253P. doi: 10.1016/0014-5793(91)81296-K . PMID   1657644. S2CID   84984587.
• Collin T, Wang JJ, Nargeot J, Schwartz A (June 1993). "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. doi: 10.1161/01.res.72.6.1337 . PMID   7916667.
• Fukuda K, Kaneko S, Yada N, Kikuwaka M, Akaike A, Satoh M (October 1996). "Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes". Neuroscience Letters. 217 (1): 13–16. doi:10.1016/0304-3940(96)13055-X. PMID   8905728. S2CID   40498858.
• Gregg RG, Messing A, Strube C, Beurg M, Moss R, Behan M, et al. (November 1996). "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. doi: 10.1073/pnas.93.24.13961 . PMC   19477 . PMID   8943043.
• Brice NL, Dolphin AC (March 1999). "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. doi:10.1111/j.1469-7793.1999.685ab.x. PMC   2269176 . PMID   10066897.
• Lie AA, Blümcke I, Volsen SG, Wiestler OD, Elger CE, Beck H (1999). "Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy". Neuroscience. 93 (2): 449–456. doi:10.1016/S0306-4522(99)00162-1. PMID   10465427. S2CID   12890647.
• Hogan K, Greg RG, Powers PA (December 1999). "Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels". Neuroscience Letters. 277 (2): 111–114. doi:10.1016/S0304-3940(99)00851-4. PMID   10624822. S2CID   32210526.
• Finlin BS, Crump SM, Satin J, Andres DA (November 2003). "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. Bibcode:2003PNAS..10014469F. doi: 10.1073/pnas.2437756100 . PMC   283615 . PMID   14623965.
• Navarro-Lérida I, Martínez Moreno M, Roncal F, Gavilanes F, Albar JP, Rodríguez-Crespo I (February 2004). "Proteomic identification of brain proteins that interact with dynein light chain LC8". Proteomics. 4 (2): 339–346. doi:10.1002/pmic.200300528. PMID   14760703. S2CID   8868600.
• Foell JD, Balijepalli RC, Delisle BP, Yunker AM, Robia SL, Walker JW, et al. (April 2004). "Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization". Physiological Genomics. 17 (2): 183–200. doi:10.1152/physiolgenomics.00207.2003. PMID   14762176. S2CID   38889757.
• Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, et al. (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–814. doi: 10.1016/j.cell.2006.03.032 . PMID   16713569. S2CID   13709685.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.

External links

• CACNB1+protein,+human at the U.S. 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.