ACTA1
ACTA1 (actin alpha 1, skeletal muscle; also NEM3 and ACTA) encodes the alpha skeletal muscle actin, a highly conserved member of the actin family. It is a major constituent of the contractile apparatus in skeletal muscle, and mutations in the gene cause several congenital myopathies. Browse Assay Genie's current range of ACTA1 research reagents below, or read on for the biology behind the target.
ACTA1 belongs to the actin family, a group of highly conserved proteins involved in various types of cell motility and ubiquitously expressed in all eukaryotic cells. Actins contribute to cell motility, structure and integrity. Three isoform classes have been identified: alpha, beta and gamma. Alpha actins are a major constituent of the contractile apparatus, whereas beta and gamma actins are involved in the regulation of cell motility. ACTA1 is an alpha actin found in skeletal muscle, and the protein is located in the cytoplasm as part of the cytoskeleton.
The human ACTA1 gene is classified by HGNC within the actins gene group, and the protein is listed in UniProt as actin, alpha skeletal muscle. It is also known by the aliases NEM3 and ACTA. The protein carries the enzyme classification EC 3.6.4.-, reflecting its hydrolase activity acting on ATP in association with the cytoskeleton. Mouse and rat both have an orthologous gene, Acta1, which allows the biology of skeletal muscle actin to be studied in common model organisms.
Mutations in the ACTA1 gene cause a variety of myopathies. These include nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fibre-type disproportion. These diseases lead to muscle fibre defects, with manifestations such as hypotonia. The NEM3 alias reflects the association with nemaline myopathy. Researchers studying the ACTA1 protein therefore often focus on sarcomere structure and the mechanisms by which actin variants disrupt muscle function.
ACTA1 is an alpha actin and a major constituent of the contractile apparatus, making it central to studies of skeletal muscle structure.
Mutations in ACTA1 cause nemaline myopathy and other congenital myopathies, including those with cores or fibre-type disproportion.
Actins are highly conserved proteins involved in cell motility, structure and integrity, so ACTA1 informs wider cytoskeletal research.
Alpha, beta and gamma actins have distinct roles, and ACTA1 provides the skeletal muscle alpha reference for isoform studies.
ACTA1 encodes a skeletal muscle alpha actin. Alpha actins are a major constituent of the contractile apparatus, while actins in general are highly conserved proteins that play a role in cell motility, structure and integrity.
ACTA1 is the HGNC symbol for actin alpha 1, skeletal muscle. Aliases are NEM3 and ACTA, and UniProt lists the protein as actin, alpha skeletal muscle. NEM3 reflects the link to nemaline myopathy.
Yes. Mutations in ACTA1 cause several myopathies, including nemaline myopathy and congenital myopathies with cores or fibre-type disproportion. Actins are highly conserved, and mouse and rat have orthologous Acta1 genes. Check the datasheet of any product for its validated reactivity.
Other actin isoforms and muscle-related proteins that may be of interest alongside ACTA1.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P68133; product specifications from Assay Genie datasheets.