Aliases for ACTA1 Gene
External Ids for ACTA1 Gene
Previous HGNC Symbols for ACTA1 Gene
Previous GeneCards Identifiers for ACTA1 Gene
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACTA1 Gene
ACTA1 (Actin, Alpha 1, Skeletal Muscle) is a Protein Coding gene. Diseases associated with ACTA1 include myopathy, congenital, with fiber-type disproportion and nemaline myopathy 3, autosomal dominant or recessive. Among its related pathways are Akt Signaling and ERK Signaling. GO annotations related to this gene include structural constituent of cytoskeleton and myosin binding. An important paralog of this gene is ACTB.
UniProtKB/Swiss-Prot for ACTA1 Gene
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells
Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found in two main states; G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G- and F-actin are intrinsically flexible structures - a feature vital in actin's role as a dynamic filament network. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular 'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actin is a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherens junctions. This gives mechanical support to cells and attaches them to each other and the extracellular matrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to form actomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening through actin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has a role in cell motility through polymerization and depolymerization of fibrils.