CACNB1

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

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
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 98,001,508 bp[2] End 98,023,034 bp[2]
RNA expression pattern 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 • cell 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: 98 – 98.02 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

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 (Mar 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): 185–7. doi:10.1006/geno.1993.1029. PMID 8381767.
6. Iles DE, Segers B, Sengers RC, Monsieurs K, Heytens L, Halsall PJ, Hopkins PM, Ellis FR, Hall-Curran JL, Stewart AD, et al. (Oct 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". Hum Mol Genet. 2 (7): 863–8. doi:10.1093/hmg/2.7.863. PMID 8395940.
7. "Entrez Gene: CACNB1 calcium channel, voltage-dependent, beta 1 subunit".

Further reading

• Williams ME, Feldman DH, McCue AF, et al. (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.
• Perez-Reyes E, Castellano A, Kim HS, et al. (1992). "Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel". J. Biol. Chem. 267 (3): 1792–7. PMID 1370480.
• Powers PA, Liu S, Hogan K, Gregg RG (1992). "Skeletal muscle and brain isoforms of a beta-subunit of human voltage-dependent calcium channels are encoded by a single gene". J. Biol. Chem. 267 (32): 22967–72. PMID 1385409.
• Pragnell M, Sakamoto J, Jay SD, Campbell KP (1991). "Cloning and tissue-specific expression of the brain calcium channel beta-subunit". FEBS Lett. 291 (2): 253–8. doi:10.1016/0014-5793(91)81296-K. PMID 1657644.
• Collin T, Wang JJ, Nargeot J, Schwartz A (1993). "Molecular cloning of three isoforms of the L-type voltage-dependent calcium channel beta subunit from normal human heart". Circ. Res. 72 (6): 1337–44. doi:10.1161/01.res.72.6.1337. PMID 7916667.
• Fukuda K, Kaneko S, Yada N, et al. (1997). "Cyclic AMP-dependent modulation of N- and Q-type Ca2+ channels expressed in Xenopus oocytes". Neurosci. Lett. 217 (1): 13–6. doi:10.1016/0304-3940(96)13055-X. PMID 8905728.
• Gregg RG, Messing A, Strube C, et al. (1997). "Absence of the β subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the α1 subunit and eliminates excitation-contraction coupling". Proc. Natl. Acad. Sci. U.S.A. 93 (24): 13961–6. doi:10.1073/pnas.93.24.13961. PMC 19477. PMID 8943043.
• Brice NL, Dolphin AC (1999). "Differential plasma membrane targeting of voltage-dependent calcium channel subunits expressed in a polarized epithelial cell line". J. Physiol. 515 ( Pt 3) (3): 685–94. doi:10.1111/j.1469-7793.1999.685ab.x. PMC 2269176. PMID 10066897.
• Lie AA, Blümcke I, Volsen SG, et al. (1999). "Distribution of voltage-dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy". Neuroscience. 93 (2): 449–56. doi:10.1016/S0306-4522(99)00162-1. PMID 10465427.
• Hogan K, Greg RG, Powers PA (2000). "Structure and alternative splicing of the gene encoding the human beta1 subunit of voltage dependent calcium channels". Neurosci. Lett. 277 (2): 111–4. doi:10.1016/S0304-3940(99)00851-4. PMID 10624822.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Finlin BS, Crump SM, Satin J, Andres DA (2004). "Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases". Proc. Natl. Acad. Sci. U.S.A. 100 (24): 14469–74. doi:10.1073/pnas.2437756100. PMC 283615. PMID 14623965.
• Navarro-Lérida I, Martínez Moreno M, Roncal F, et al. (2004). "Proteomic identification of brain proteins that interact with dynein light chain LC8". Proteomics. 4 (2): 339–46. doi:10.1002/pmic.200300528. PMID 14760703.
• Foell JD, Balijepalli RC, Delisle BP, et al. (2004). "Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization". Physiol. Genomics. 17 (2): 183–200. doi:10.1152/physiolgenomics.00207.2003. PMID 14762176.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. 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.