ACTA1
GeneName
ACTA1
Summary
ACTA1, also known as F actin or muscle actin, is a 42 kDa protein that is a fundamental component of the actin cytoskeleton in striated muscle cells. It is primarily expressed in skeletal muscle and plays a crucial role in muscle contraction and structural integrity. ACTA1 is involved in the assembly of the thin filaments within the sarcomere, facilitating myosin binding and the generation of contractile force. Additionally, it participates in various cellular processes such as mesenchyme migration and positive regulation of gene expression, contributing to muscle fibre development and function.
Importance
ACTA1 is relevant to: - Muscle disorders, including congenital myopathies, due to its role in skeletal muscle structure and function. - The study of muscle contraction mechanisms, providing insights into muscle physiology and pathophysiology. - Research into cytoskeletal dynamics, as it is a key player in actin filament assembly and organisation. - Investigations into cellular migration and morphology, as it is involved in the formation of cellular protrusions like filopodia and lamellipodia.
Top Products
For researchers investigating ACTA1, we highly recommend the top-selling recombinant antibody, Anti-Actin antibody [EPR16769] (ab179467). This antibody is well-cited, with 547 citations, reflecting its reliability and trust within the scientific community. It has been validated for use in a variety of applications, including Western blotting (WB), immunohistochemistry (IHC), immunocytochemistry (ICC), flow cytometry (FC), and immunoprecipitation (IP). Its versatility makes it an excellent choice for those seeking consistent and effective detection of ACTA1 across different experimental setups.
Abcam Product Citation Summary
The data indicates that ACTA1 is frequently studied in various human and animal models, particularly in the context of cellular responses to different stimuli and conditions. The use of Abcam antibodies in Western blotting highlights the importance of ACTA1 in understanding cellular mechanisms related to apoptosis, signaling pathways, and tissue responses in both health and disease.
Abcam Product Citation Table
Function
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Involvement in disease
Congenital myopathy 2A, typical, autosomal dominant
CMYO2A
A muscular disorder characterized by generalized muscle weakness, delayed motor milestones, hypotonia, and muscle fiber abnormalities on histologic examination. Histologic findings include abnormal thread- or rod-like structures (nemaline rods), intranuclear rods, clumped filaments, cores, or fiber-type disproportion. The spectrum of clinical phenotypes ranges from severe neonatal presentations to onset of a milder disorder in childhood.
None
The disease is caused by variants affecting the gene represented in this entry.
Congenital myopathy 2B, severe infantile, autosomal recessive
CMYO2B
An autosomal recessive skeletal muscle disorder characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood. Longer survival has been reported.
None
The disease is caused by variants affecting the gene represented in this entry.
Congenital myopathy 2C, severe infantile, autosomal dominant
CMYO2C
An autosomal dominant skeletal muscle disorder characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases.
None
The disease is caused by variants affecting the gene represented in this entry.
Myopathy, scapulohumeroperoneal
SHPM
An autosomal dominant muscular disorder characterized by progressive muscle weakness with initial scapulo-humeral-peroneal and distal distribution. Over time, muscle weakness progresses to proximal muscle groups. Clinical characteristics include scapular winging, mild lower facial weakness, foot drop due to foot eversion and dorsiflexion weakness, and selective muscle atrophy. Age at onset and disease progression are variable.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Oxidation of Met-46 and Met-49 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.
Monomethylation at Lys-86 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.
Actin, alpha skeletal muscle, intermediate form
N-terminal cleavage of acetylated cysteine of intermediate muscle actin by ACTMAP.
Methylated at His-75 by SETD3.
(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-52 of one monomer and Glu-272 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).
Sequence Similarities
Belongs to the actin family.
Cellular localization
- Cytoplasm
- Cytoskeleton
Alternative names
ACTA, ACTA1, Alpha-actin-1