This gene encodes one of three calmodulin proteins which are members of the EF-hand calcium-binding protein family. (nih.gov)
Calmodulin is a small, highly conserved calcium binding protein found in all eukaryotic cells. (thermofisher.com)
CALM2 G114R is a variation in the gene CALM2 that codes for a protein called calmodulin ( read our genetics explainer ) which, in turn, regulates the movement of calcium in heart muscle cells. (cosmosmagazine.com)
The activity of the protein phosphatase calcineurin (CN) is regulated by an autoinhibition mechanism wherein several domains from its catalytic A subunit, including the calmodulin binding domain (CaMBD), block access to its active site. (rcsb.org)
CALM1 encodes a 149 amino acid protein, spans around 10 kb and is located at Chr 14p32.11 (Berchtold et al. (preventiongenetics.com)
Calmodulin is a calcium-binding protein expressed in many eukaryotic cells. (genaxxon.com)
Proteins3
As it binds calcium, calmodulin undergoes conformational changes which can increase its affinity for target proteins. (thermofisher.com)
1993). CALM1 is the archetype of the calmodulin (calcium-modulated proteins) family of which nearly 20 members have been identified. (preventiongenetics.com)
But if you have the CALM2 G114R variant, calmodulin gets bad at closing the channel - it stays open and calcium can come and go as it pleases. (cosmosmagazine.com)
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. (medlineplus.gov)
Interaction2
Subtype Differences in the Interaction of HIV-1 Matrix with Calmodulin: Implications for Biological Functions. (nih.gov)
2015). Pathogenic variants in CALM1 impair calcium binding of calmodulin and disturb calmodulin-RYR2 interaction, which plays a key role in arrhythmia and heart failure (Nyegaard et al. (preventiongenetics.com)
Antibody1
The following product was used in this experiment: Phospho-Calmodulin 1/2/3 (Thr79, Ser81) Polyclonal Antibody from Thermo Fisher Scientific, catalog # PA5-104932, RRID AB_2816405. (thermofisher.com)
Long QT syndr2
Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIδ autophosphorylation and L-type calcium channel inactivation. (nih.gov)
Pathogenic variants in CALM1 can cause multiple disorders, such as Long QT syndrome type 14 (LQT14) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). (preventiongenetics.com)
Regulates2
Calcium-induced activation of calmodulin regulates and modulates the function of cardiac ion channels. (nih.gov)
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. (nih.gov)
So what is calmodulin, and what can a mutation in the gene that codes for it do to the heart? (cosmosmagazine.com)
Calmodulin Interactions with Voltage-Gated Sodium Channels. (nih.gov)
Calmodulin closes the ion channels through which calcium flits in and out of the heart muscle cells. (cosmosmagazine.com)
Calcium6
Calmodulin is a small, highly conserved calcium binding protein found in all eukaryotic cells. (thermofisher.com)
As it binds calcium, calmodulin undergoes conformational changes which can increase its affinity for target proteins. (thermofisher.com)
Studies have found that calmodulin participates in the regulation of several biological processes including energy and biosynthetic metabolism, cell motility, exocytosis, cytoskeletal assembly, and intracellular modulation of both cAMP and calcium concentrations. (thermofisher.com)
RESULTS: Sixteen calcium signal pathway-related proteins were identified, however, only Calmodulin-1(CALM1) was continuously increased. (bvsalud.org)
Cellular signaling generates calcium (Ca2+) ions, which are ubiquitous secondary messengers decoded by calcium-dependent protein kinases, calcineurins, calreticulin, calmodulins (CAMs), and CAM-binding proteins. (bvsalud.org)
The binding via the C motif is calcium independent whereas the binding via IQ requires the presence of calcium and is mutually exclusive with calmodulin binding (PubMed:15140941). (icr.ac.uk)
Mutations2
Calmodulin 1 (CALM1) mutations are involved in the development of coronary artery disease (CAD). (nih.gov)
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry. (medlineplus.gov)
Polymorphism2
However, the relationship of CALM1 rs3179089 polymorphism with CAD is unknown. (nih.gov)
Is polymorphism of CALM1 gene or growth hormone receptor gene associated with susceptibility to adolescent idiopathic scoliosis? (cdc.gov)
Gene2
The association study of calmodulin 1 gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. (cdc.gov)
Is calmodulin 1 gene/estrogen receptor-alpha gene polymorphisms correlated with double curve pattern of adolescent idiopathic scoliosis? (cdc.gov)
Molecule1
The calmodulin structure from our crystals is very similar to the earlier 2.2 A structure described by Babu and coworkers with a root-mean-square deviation of 0.36 A. Calmodulin remains a dumb-bell-shaped molecule, with similar lobes and connected by a central alpha-helix. (rcsb.org)
Stability2
Has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CCP110. (nih.gov)
4. CaM: predicting the effects of disease-associated variants on the stability of calmodulin in apo and holo forms. (genomeinterpretation.org)
Structure2
We have determined and refined the crystal structure of a recombinant calmodulin at 1.7 A resolution. (rcsb.org)
Herein, we describe hydrogen bonding in the various secondary structure elements and hydration of calmodulin. (rcsb.org)
Found1
Different expression of CALM1 was found in patients with different level of estimated glomerular filtration rate (eGFR) in two cohorts. (bvsalud.org)
Results1
Collectively, these results indicate that the transportation of SP fragments to extracellular vesicles was changed by cellular activation, and calmodulin was involved in their transportation to LEV and SEV. (bvsalud.org)
Presence1
Moreover, the content of SEAP SP fragments in LEV and SEV decreased in the presence of W13, a calmodulin inhibitor. (bvsalud.org)