CALM1

Description

The CALM1 (calmodulin 1) is a protein-coding gene located on chromosome 14.

Calmodulin 1 is a protein in humans that is encoded by the CALM1 gene. Calmodulin plays a role in calcium signal transduction pathways by regulating control of ion channels, enzymes, aquaporins, and other proteins. It functions as a calcium-binding protein that has been grouped into the EF-hand motif found in eukaryotic cells. Calmodulin plays a significant role in numerous cellular pathways and it acts as a calcium detector within the cells that interact with varied target proteins. Additionally, it simulates the activation of over twenty amino acids which helps to control various physiological functions. It is also required for various regulatory roles in cell proliferation and throughout many points during the cell cycle. Upon binding to targeted calcium (acts as ligand), calmodulin undergoes a change in shape that allows it to interact with multiple protein types including phosphatases, ion channels, and kinases. This conformational change is associated with undergoing various cellular processes: including muscle contraction, release of neurotransmitters into the bloodstream, and gene expression.

== Function == Calmodulin 1 is the archetype of the family of calcium-modulated (calmodulin) proteins of which nearly 20 members have been found. They are identified by their occurrence in the cytosol or on membranes facing the cytosol and by a high affinity for calcium.

Calmodulin 1 acts as a key component of calcium signal transduction pathways, regulating a wide array of cellular processes through calcium binding. It controls various enzymes, ion channels, aquaporins, and other proteins by mediating their activity via calcium-dependent interactions. This includes activation of several protein kinases, like myosin light-chain kinases and CaMK2, as well as phosphatases. Calmodulin 1, in conjunction with CCP110 and centrin, is involved in a genetic pathway that governs the centrosome cycle and cytokinesis. It functions as a regulator of voltage-dependent L-type calcium channels, mediates calcium-dependent inactivation of CACNA1C, and positively regulates calcium-activated potassium channel activity of KCNN2. Calmodulin 1 forms a potassium channel complex with KCNQ1, regulating its electrophysiological activity through calcium binding. It acts as a sensor to modulate interactions between the endoplasmic reticulum and other organelles, mediated by VMP1:ATP2A2.

CALM1 is also known as CALML2, CAM2, CAM3, CAMB, CAMC, CAMI, CAMIII, CPVT4, DD132, LQT14, PHKD, PHKD1, caM.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing