| Entrez gene ID | | 87 |
|
| Official gene symbol | | ACTN1 |
|
| Full name | | actinin, alpha 1 |
|
| Aliases | | ,FLJ40884,FLJ54432, |
|
| Gene summary | | 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] |
|
| Location | | Chromosome: 14 Locus: 14q24.1-q24.2|14q24| |
|
| Gene position | | 69446083 - 69340840 Map Viewer |
|
| Gene orientation | | minus |
|
| Gene size | | 105244 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 102575 |
|
|
|
