CTNNA1

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 N-cadherin signaling events and PAK Pathway. Gene Ontology (GO) annotations related to this gene include actin filament binding. An important paralog of this gene is CTNNA2.

Catenin Alpha 1

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. Involved in the regulation of WWTR1/TAZ, YAP1 and TGFB1-dependent SMAD2 and SMAD3 nuclear accumulation (By similarity).

May play a crucial role in cell differentiation.

Actin filament organization Source: InterPro
Adherens junction organization Source: Reactome
Aging Source: Ensembl
Apical junction assembly Source: UniProtKB
Axon regeneration Source: Ensembl
Cell adhesion Source: ProtInc
Cell-cell adhesion Source: GO_Central
Cell migration Source: GO_Central
Cellular protein localization Source: Ensembl
Cellular response to indole-3-methanol Source: UniProtKB
Epithelial cell-cell adhesion Source: Ensembl
Establishment or maintenance of cell polarity Source: Ensembl
Gap junction assembly Source: Ensembl
Male gonad development Source: Ensembl
Negative regulation of cell motility Source: Ensembl
Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
Negative regulation of integrin-mediated signaling pathway Source: Ensembl
Negative regulation of neuroblast proliferation Source: Ensembl
Negative regulation of protein localization to nucleus Source: UniProtKB
Odontogenesis of dentin-containing tooth Source: Ensembl
Ovarian follicle development Source: Ensembl
Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
Positive regulation of muscle cell differentiation Source: Reactome
Positive regulation of smoothened signaling pathway Source: Ensembl
Response to estrogen Source: Ensembl

Isoform 1: Cell membrane; Cytoskeleton; Adherens junction; Cell junction. Found at cell-cell boundaries and probably at cell-matrix boundaries.
Isoform 3: Cell membrane

Germline CTNNA1 truncating mutations have been detected in patients with hereditary diffuse gastric cancer (HDGC) and may play a role in disease susceptibility. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body.
Macular dystrophy, patterned, 2 (MDPT2):
A form of retinal patterned dystrophy, a heterogeneous group of macular disorders caused by abnormal accumulation of lipofuscin in the retinal pigment epithelium. Lipofuscin distribution can show various shapes that define different types of macular dystrophy, including reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. MDPT2 is an autosomal dominant form characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly.

Sumoylated.
Phosphorylation seems to contribute to the strength of cell-cell adhesion rather than to the basic capacity for cell-cell adhesion.