Aliases for CTNNA1 Gene
External Ids for CTNNA1 Gene
Previous GeneCards Identifiers for CTNNA1 Gene
This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
GeneCards Summary for CTNNA1 Gene
CTNNA1 (Catenin Alpha 1) is a Protein Coding gene. Diseases associated with CTNNA1 include Macular Dystrophy, Patterned, 2 and Butterfly-Shaped Pigment Dystrophy. Among its related pathways are E-cadherin signaling in keratinocytes and Arrhythmogenic right ventricular cardiomyopathy (ARVC). GO annotations related to this gene include poly(A) RNA binding and actin filament binding. An important paralog of this gene is CTNNA2.
UniProtKB/Swiss-Prot for CTNNA1 Gene
Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical actin was found to be much more dynamic than E-cadherin/catenin complexes and CTNNA1 was shown not to bind to F-actin when assembled in the complex suggesting a different linkage between actin and adherens junctions components. The homodimeric form may regulate actin filament assembly and inhibit actin branching by competing with the Arp2/3 complex for binding to actin filaments. May play a crucial role in cell differentiation.