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Calcium channel, voltage-dependent, alpha 2/delta subunit 1
Identifiers
Symbols CACNA2D1; CACNA2; CACNL2A; CCHL2A; MHS3
External IDs OMIM114204 MGI88295 HomoloGene579 GeneCards: CACNA2D1 Gene
RNA expression pattern
PBB GE CACNA2D1 207050 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 781 12293
Ensembl ENSG00000153956 ENSMUSG00000040118
UniProt P54289 Q8C6Y3
RefSeq (mRNA) NM_000722 NM_009784
RefSeq (protein) NP_000713 NP_033914
Location (UCSC) Chr 7:
81.42 - 81.91 Mb
Chr 5:
15.45 - 15.88 Mb
PubMed search [1] [2]

Voltage-dependent calcium channel subunit alpha-2/delta-1 is a protein that in humans is encoded by the CACNA2D1 gene.[1][2]

This gene encodes a member of the alpha-2/delta 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. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized.[2]

Contents

See also

References

  1. ^ Powers PA, Scherer SW, Tsui LC, Gregg RG, Hogan K (Jun 1994). "Localization of the gene encoding the alpha 2/delta subunit (CACNL2A) of the human skeletal muscle voltage-dependent Ca2+ channel to chromosome 7q21-q22 by somatic cell hybrid analysis". Genomics 19 (1): 192-3. doi:10.1006/geno.1994.1044. PMID 8188232.  
  2. ^ a b "Entrez Gene: CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=781.  

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.  
  • Ellis SB, Williams ME, Ways NR, et al. (1988). "Sequence and expression of mRNAs encoding the alpha 1 and alpha 2 subunits of a DHP-sensitive calcium channel.". Science 241 (4873): 1661–4. doi:10.1126/science.2458626. PMID 2458626.  
  • Iles DE, Lehmann-Horn F, Scherer SW, et al. (1994). "Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.". Hum. Mol. Genet. 3 (6): 969–75. doi:10.1093/hmg/3.6.969. PMID 7951247.  
  • Brust PF, Simerson S, McCue AF, et al. (1994). "Human neuronal voltage-dependent calcium channels: studies on subunit structure and role in channel assembly.". Neuropharmacology 32 (11): 1089–102. doi:10.1016/0028-3908(93)90004-M. PMID 8107964.  
  • "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. PMID 9847074.  
  • Schleithoff L, Mehrke G, Reutlinger B, Lehmann-Horn F (1999). "Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2).". Genomics 61 (2): 201–9. doi:10.1006/geno.1999.5941. PMID 10534405.  
  • Bell DC, Butcher AJ, Berrow NS, et al. (2001). "Biophysical properties, pharmacology, and modulation of human, neuronal L-type (alpha(1D), Ca(V)1.3) voltage-dependent calcium currents.". J. Neurophysiol. 85 (2): 816–27. PMID 11160515.  
  • 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. PMID 12477932.  
  • Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.  
  • Stotz SC, Barr W, McRory JE, et al. (2004). "Several structural domains contribute to the regulation of N-type calcium channel inactivation by the beta 3 subunit.". J. Biol. Chem. 279 (5): 3793–800. doi:10.1074/jbc.M308991200. PMID 14602720.  
  • Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMID 16335952.  
  • Antzelevitch C, Pollevick GD, Cordeiro JM, et al. (2007). "Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.". Circulation 115 (4): 442–9. doi:10.1161/CIRCULATIONAHA.106.668392. PMID 17224476.  
  • Chaudhuri D, Issa JB, Yue DT (2007). "Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels.". J. Gen. Physiol. 129 (5): 385–401. doi:10.1085/jgp.200709749. PMID 17438119.  

External links

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

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