CACNB4
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Voltage-dependent L-type calcium channel subunit beta-4 is a protein that in humans is encoded by the CACNB4 gene.[3][4]
Function
This gene encodes a member of the beta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein described in this record plays an important role in calcium channel function 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. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized.[4]
Clinical significance
Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME).[4]
Interactions
CACNB4 has been shown to interact with Cav2.1.[5][6]
See also
References
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Escayg A, Jones JM, Kearney JA, Hitchcock PF, Meisler MH (Apr 1999). "Calcium channel beta 4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic". Genomics. 50 (1): 14–22. doi:10.1006/geno.1998.5311. PMID 9628818.
- 1 2 3 "Entrez Gene: CACNB4 calcium channel, voltage-dependent, beta 4 subunit".
- ↑ Walker, D; Bichet D; Campbell K P; De Waard M (Jan 1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit". J. Biol. Chem. United States. 273 (4): 2361–7. doi:10.1074/jbc.273.4.2361. ISSN 0021-9258. PMID 9442082.
- ↑ Walker, D; Bichet D; Geib S; Mori E; Cornet V; Snutch T P; Mori Y; De Waard M (Apr 1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation". J. Biol. Chem. United States. 274 (18): 12383–90. doi:10.1074/jbc.274.18.12383. ISSN 0021-9258. PMID 10212211.
Further reading
- Volsen SG, Day NC, McCormack AL, et al. (1997). "The expression of voltage-dependent calcium channel beta subunits in human cerebellum.". Neuroscience. 80 (1): 161–74. doi:10.1016/S0306-4522(97)00115-2. PMID 9252229.
- Lory P, Ophoff RA, Nahmias J (1997). "Towards a unified nomenclature describing voltage-gated calcium channel genes.". Hum. Genet. 100 (2): 149–50. doi:10.1007/s004390050481. PMID 9254840.
- Taviaux S, Williams ME, Harpold MM, et al. (1997). "Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23.". Hum. Genet. 100 (2): 151–4. doi:10.1007/PL00008704. PMID 9254841.
- Walker D, Bichet D, Campbell KP, De Waard M (1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit.". J. Biol. Chem. 273 (4): 2361–7. doi:10.1074/jbc.273.4.2361. PMID 9442082.
- Betz R, Leibiger B, Farnebo F, et al. (1998). "Mapping of the human Ca2+ channel beta 4 subunit to 2q22-23 and its expression in developing mouse.". Mamm. Genome. 9 (4): 310–1. doi:10.1007/s003359900755. PMID 9530629.
- Day NC, Volsen SG, McCormack AL, et al. (1998). "The expression of voltage-dependent calcium channel beta subunits in human hippocampus.". Brain Res. Mol. Brain Res. 60 (2): 259–69. doi:10.1016/S0169-328X(98)00186-7. PMID 9757060.
- Walker D, Bichet D, Geib S, et al. (1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation.". J. Biol. Chem. 274 (18): 12383–90. doi:10.1074/jbc.274.18.12383. PMID 10212211.
- Escayg A, De Waard M, Lee DD, et al. (2000). "Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.". Am. J. Hum. Genet. 66 (5): 1531–9. doi:10.1086/302909. PMC 1378014
. PMID 10762541. - Helton TD, Horne WA (2002). "Alternative splicing of the beta 4 subunit has alpha1 subunit subtype-specific effects on Ca2+ channel gating.". J. Neurosci. 22 (5): 1573–82. PMID 11880487.
- 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.
- Chen YH, Li MH, Zhang Y, et al. (2004). "Structural basis of the alpha1-beta subunit interaction of voltage-gated Ca2+ channels.". Nature. 429 (6992): 675–80. doi:10.1038/nature02641. PMID 15170217.
- Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Vendel AC, Rithner CD, Lyons BA, Horne WA (2006). "Solution structure of the N-terminal A domain of the human voltage-gated Ca2+channel beta4a subunit.". Protein Sci. 15 (2): 378–83. doi:10.1110/ps.051894506. PMC 2242464. PMID 16385006.
- Vendel AC, Terry MD, Striegel AR, et al. (2006). "Alternative splicing of the voltage-gated Ca2+ channel beta4 subunit creates a uniquely folded N-terminal protein binding domain with cell-specific expression in the cerebellar cortex.". J. Neurosci. 26 (10): 2635–44. doi:10.1523/JNEUROSCI.0067-06.2006. PMID 16525042.
- von Brevern M, Ta N, Shankar A, et al. (2006). "Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.". Headache. 46 (7): 1136–41. doi:10.1111/j.1526-4610.2006.00504.x. PMID 16866717.
- Kobayashi T, Yamada Y, Fukao M, et al. (2007). "The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit.". Biochem. Biophys. Res. Commun. 360 (3): 679–83. doi:10.1016/j.bbrc.2007.06.112. PMID 17618603.
External links
- CACNB4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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