Endogenous

ACTB

Actin cytoplasmic 1

ACTB ;
Actin ;
cytoplasmic 1 ;
Beta-actin ;
Actin β ;
β-Actin ;
Beta actin ;
B actin ;
actin Beta ;

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, and integrity. This actin is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins. [provided by RefSeq, Jul 2008],

Disease:Defects in ACTB are a cause of dystonia juvenile-onset (DYTJ) [MIM:607371]. DYTJ is a form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTJ patients manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss.,Function:Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.,miscellaneous:In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.,similarity:Belongs to the actin family.,subunit: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. Component of the BAF complex, which includes at least actin (ACTB), ARID1A, ARID1B/BAF250, SMARCA2, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Found in a complex with XPO6, Ran, ACTB and PFN1. Interacts with XPO6.,

Cytoplasm

>>Rap1 signaling pathway ;
>>Phagosome ;
>>Apoptosis ;
>>Hippo signaling pathway ;
>>Focal adhesion ;
>>Adherens junction ;
>>Tight junction ;
>>Platelet activation ;
>>Neutrophil extracellular trap formation ;
>>Leukocyte transendothelial migration ;
>>Thermogenesis ;
>>Regulation of actin cytoskeleton ;
>>Thyroid hormone signaling pathway ;
>>Oxytocin signaling pathway ;
>>Gastric acid secretion ;
>>Amyotrophic lateral sclerosis ;
>>Bacterial invasion of epithelial cells ;
>>Vibrio cholerae infection ;
>>Pathogenic Escherichia coli infection ;
>>Shigellosis ;
>>Salmonella infection ;
>>Yersinia infection ;
>>Influenza A ;
>>Proteoglycans in cancer ;
>>Hepatocellular carcinoma ;
>>Hypertrophic cardiomyopathy ;
>>Arrhythmogenic right ventricular cardiomyopathy ;
>>Dilated cardiomyopathy ;
>>Viral myocarditis ;
>>Fluid shear stress and atherosclerosis