voltage-dependent Ca+2 channel alpha-1C (Ca+2 channel L type alpha-1 polypeptide isoform 1, cardiac muscle, Cav1.2, CACNA1C, CACNL1A1, CCHL1A1, CACH2, CACN2)
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Introduction
Dihydropyridine-sensitive, long-acting L-type Ca+2 currents
Function
- pore-forming & voltage-sensitive alpha-1 subunit of voltage-sensitive Ca+2 channel
- alpha-1C gives rise to L-type Ca+2 currents;
- long-lasting (L-type) Ca+2 channels belong to the 'high-voltage activated' (HVA) group
- blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, & by omega-agatoxin-IIIA (omega-Aga-IIIA)
- insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) & omega-agatoxin-IVA (omega-Aga-IVA)
- Ca+2 channels containing the alpha-1C subunit play a role in excitation-contraction coupling in the heart
- the various isoforms display marked differences in the sensitivity to dihydropyridines
- phosphorylation by PKA activates the channel (putative)
Structure
- each of the 4 internal repeats contains 5 hydrophobic transmembrane segments (S1, S2, S3, S5, S6) & one positively charged transmembrane segment (S4)
- S4 segments probably represent the voltage-sensor; they are characterized by a series of positively charged amino acids at every third position
- binding of intracellular Ca+2 through the EF-hand motif inhibits the opening of the channel (putative)
- belongs to the Ca+2 channel alpha-1 subunit (TC 1.A.1.11) family
Compartment
membrane
Alternative splicing
named isoforms=35
Expression
- expressed in brain, heart, jejunum, ovary, pancreatic beta-cells & vascular smooth muscle
Pathology
- expression is reduced in atherosclerotic vascular smooth muscle
- defects in CACNA1C are the cause of
- variations in CACNA1C may be associated with:
- autism, ADHD, bipolar disorder, depression, &/or schizophrenia[3] (abstract does not specify which)
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q13936.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1C
- ↑ 3.0 3.1 Cross-Disorder Group of the Psychiatric Genomics Consortium Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet, Early Online Publication, 28 February 2013 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/23453885 <Internet> http://www.thelancet.com/journals/lancet/article/PIIS0140-6736(12)62129-1/abstract
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=775
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:775
- OMIM: https://mirror.omim.org/entry/114205
- OMIM: https://mirror.omim.org/entry/601005
- OMIM: https://mirror.omim.org/entry/611875
- UniProt: http://www.uniprot.org/uniprot/Q13936.html