Aliases for ACTN1 Gene
External Ids for ACTN1 Gene
Previous GeneCards Identifiers for ACTN1 Gene
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]
GeneCards Summary for ACTN1 Gene
ACTN1 (Actinin Alpha 1) is a Protein Coding gene. Diseases associated with ACTN1 include Bleeding Disorder, Platelet-Type, 15 and Autosomal Dominant Macrothrombocytopenia. Among its related pathways are Tight junction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). GO annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is ACTN4.
UniProtKB/Swiss-Prot for ACTN1 Gene
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.