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Alternative Name |
ACTB ; Actin ; cytoplasmic 1 ; Beta-actin ; Actin β ; β-Actin ; Beta actin ; B actin ; actin Beta ; |
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Gene name |
ACTB |
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Protein Name |
Actin cytoplasmic 1 |
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Organism |
Gene ID |
UniProt ID |
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Human |
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Mouse |
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Rat |
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Cellular Localization |
Cytoplasm, cytoskeleton . Nucleus . Localized in cytoplasmic mRNP granules containing untranslated mRNAs. |
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Tissue specificity |
B-cell lymphoma,Brain,Cajal-Retzius cell,Eye,Fetal brain cortex,Foreskin,Hepatocellular car |
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Function |
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. |
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