Actin, Cardiac (ACTC1) Protein

Actins are highly conserved proteins that are involved in various types of cell motility. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to four others. The protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]

ACTC1: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others. Belongs to the actin family.

Protein type: Contractile; Cytoskeletal; Motility/polarity/chemotaxis; Cell development/differentiation; Myosin-binding

Chromosomal Location of Human Ortholog: 15q14

Cellular Component: I band; extracellular space; sarcomere; focal adhesion; membrane; cytoplasm; actin filament; cytosol

Molecular Function: myosin binding; ATPase activity; ATP binding

Biological Process: response to drug; apoptosis; metabolic process; muscle thin filament assembly; actin filament-based movement; actomyosin structure organization and biogenesis; cardiac myofibril assembly; muscle filament sliding; response to ethanol; heart contraction; cardiac muscle morphogensis; actin-myosin filament sliding; negative regulation of apoptosis; cardiac muscle contraction

Disease: Atrial Septal Defect 5; Cardiomyopathy, Familial Hypertrophic, 11; Cardiomyopathy, Dilated, 1r