actinin, alpha 3
Symbol
ACTN3
(may also be known as: None)
Organism
Human
Description
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
Orthologs
| Symbol | Species | |
|---|---|---|
| Actn | Drosophila melanogaster | |
| actn3a | Danio rerio | |
| Actn3 | Mus musculus | |
| Actn3 | Rattus norvegicus | |
| ain1 | Schizosaccharomyces pombe |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0030049 | muscle filament sliding | biological_process | |
| GO:0042981 | regulation of apoptotic process | biological_process | |
| GO:0048041 | focal adhesion assembly | biological_process | |
| GO:0005829 | cytosol | cellular_component | |
| GO:0005884 | actin filament | cellular_component | |
| GO:0005925 | focal adhesion | cellular_component | |
| GO:0031143 | pseudopodium | cellular_component | |
| GO:0003779 | actin binding | molecular_function | |
| GO:0005178 | integrin binding | molecular_function | |
| GO:0005509 | calcium ion binding | molecular_function | |
| GO:0005515 | protein binding | molecular_function | |
| GO:0008307 | structural constituent of muscle | molecular_function | |
| GO:0042803 | protein homodimerization activity | molecular_function | |