title: The impact of splice isoforms on voltage-gated calcium channel alpha1 subunits.
abstract: Semi-conserved exon boundaries in members of the CACNA1 gene family result in recurring pre-mRNA splicing patterns. The resulting variations in the encoded pore-forming subunit of the voltage-gated calcium channel affect functionally significant regions, such as the vicinity of the voltage-sensing S4 segments or the intracellular loops that are important for protein interaction. In addition to generating functional diversity, RNA splicing regulates the quantitative expression of other splice isoforms of the same gene by producing transcripts with premature stop codons which encode two-domain or three-domain channels. An overview of some of the known splice isoforms of the alpha(1) calcium channel subunits and their significance is given.
authors.affiliation: Department of Physiology, Ulm University, Ulm, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Jurkat-Rott
authors.forename: Frank
authors.initials: F
authors.lastname: Lehmann-Horn
mesh_terms: D000818:Animals; D015220:Calcium Channels / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D010446:Peptide Fragments; D020033:Protein Isoforms / Q000235:genetics; D017434:Protein Structure, Tertiary; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; D010446:Peptide Fragments; D020033:Protein Isoforms; D012333:RNA, Messenger; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type