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 Platelet activation, signaling and aggregation and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is SPTBN4.
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.