CACNB1

CACNB1
Identifiers
AliasesCACNB1, CAB1, CACNLB1, CCHLB1, calcium voltage-gated channel auxiliary subunit beta 1
External IDsMGI: 102522 HomoloGene: 20186 GeneCards: CACNB1
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q12Start39,173,456 bp[1]
End39,197,703 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

782

12295

Ensembl

ENSG00000067191

ENSMUSG00000020882

UniProt

Q02641

Q8R3Z5

RefSeq (mRNA)

NM_000723
NM_199247
NM_199248

RefSeq (protein)

NP_000714
NP_954855
NP_954856

Location (UCSC)Chr 17: 39.17 – 39.2 MbChr 11: 98 – 98.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000067191 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000020882 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. 1 2 "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.

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


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