Aliases for CALM1 Gene
External Ids for CALM1 Gene
Previous HGNC Symbols for CALM1 Gene
Previous GeneCards Identifiers for CALM1 Gene
This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.A missense mutation in the CALM1 gene has been associated with ventricular tachycardia.[provided by RefSeq, May 2020]
GeneCards Summary for CALM1 Gene
CALM1 (Calmodulin 1) is a Protein Coding gene. Diseases associated with CALM1 include Long Qt Syndrome 14 and Ventricular Tachycardia, Catecholaminergic Polymorphic, 4. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and Physiological and Pathological Hypertrophy of the Heart. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CALM3.
UniProtKB/Swiss-Prot Summary for CALM1 Gene
Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Is a regulator of voltage-dependent L-type calcium channels (PubMed:31454269). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). Forms a potassium channel complex with KCNQ1 and regulates electrophysiological activity of the channel via calcium-binding (PubMed:25441029).
(Microbial infection) Required for Legionella pneumophila SidJ glutamylase activity.