{"symbol":"ACTN1","synonyms":["BDPLT15"],"name":"actinin, alpha 1","description":"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]","ncbiEntrezGeneId":87,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/87","proteins":[{"symbol":"ACTN1_HUMAN","href":"/api/1.0/protein/ACTN1_HUMAN"}],"hgncRootFamilies":[{"name":"EF-hand domain containing","href":"/api/1.0/gene_family/EF-hand+domain+containing"}]}