ACTN1/2/3/4 Antibody

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACTN1: a cytoskeletal protein of the spectrin superfamily. An actin-binding protein with multiple roles in different cell types. A nonmuscle isoform structurally similar to the erythroid beta spectrin gene.

Protein type: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 14q24|14q22-q24

Cellular Component: extracellular space; cortical actin cytoskeleton; focal adhesion; dendritic spine; extracellular region; fascia adherens; pseudopodium; cytosol; Z disc; ruffle; cell projection; cytoplasm; plasma membrane; stress fiber; nucleus

Molecular Function: integrin binding; actin filament binding; protein domain specific binding; protein binding; ligand-dependent nuclear receptor transcription coactivator activity; double-stranded RNA binding; calcium ion binding; vinculin binding

Biological Process: actin crosslink formation; regulation of apoptosis; focal adhesion formation; actin filament bundle formation; platelet activation; extracellular matrix organization and biogenesis; platelet degranulation; negative regulation of cell motility; blood coagulation

Disease: Bleeding Disorder, Platelet-type, 15