CTNNA1 Gene Summary
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]
Details
| Type | Protein Coding |
| Official Symbol | CTNNA1 |
| Official Name | catenin alpha 1 [Source:HGNC Symbol;Acc:HGNC:2509] |
| Ensembl ID | ENSG00000044115 |
| Bio databases IDs | |
| Aliases | catenin alpha 1, alpha-E-catenin |
| Synonyms | 2010010M04RIK,Alpha1 Catenin,Alpha E-catenin,CAP102,Catenin alpha1,catenin α 1,CATNA1,LOC100911326,MDBS2,MDPT2,α E-Catenin |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- actin filament binding
- Vinculin family
- binding protein
- gamma-catenin binding
- beta-catenin binding
- cadherin binding
- vinculin binding
- protein binding
- identical protein binding
Pathways
Biological processes and signaling networks where the CTNNA1 gene plays a role, providing insight into its function and relevance in health or disease.
- Endometrial Cancer Signaling
- Epithelial Adherens Junction Signaling
- Germ Cell-Sertoli Cell Junction Signaling
- Leukocyte Extravasation Signaling
- Molecular Mechanisms of Cancer
- Osteoarthritis Pathway
- Remodeling of Epithelial Adherens Junctions
- Sertoli Cell-Sertoli Cell Junction Signaling
- Tight Junction Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- craniosynostosis
- liver cancer
- hereditary diffuse gastric cancer
- diffuse gastric and lobular breast cancer syndrome
- cardiomyopathy
- patterned macular dystrophy type 2
- metastasis
- Alzheimer disease
- epithelial cancer
role in cell
- migration
- apoptosis
- expression in
- proliferation
- cell death
- activation in
- organization
- assembly
- compaction
- response by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell junction
- intracellular membrane-bounded organelle
- extracellular vesicles
- Cytoplasm
- Extracellular Space
- Nucleus
- Golgi Apparatus
- intercellular junctions
- cell-cell contacts
- cytosol
- apical membrane
- acrosome
- growth cone
- intercalated disks
- zonula adherens
- microsomal membrane
- cell-cell adherens junctions
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the CTNNA1 gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- response to estrogen stimulus
- male gonad development
- epithelial cell-cell adhesion
- protein localization
- odontogenesis of dentin-containing tooth
- cell adhesion
- extrinsic apoptotic signaling pathway in absence of ligand
- integrin-mediated signaling pathway
- neuroblast proliferation
- negative regulation of neuroblast proliferation
- apical junction assembly
- negative regulation of integrin-mediated signaling pathway
- cell migration
- negative regulation of protein localization to nucleus
- negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
- positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
- establishment or maintenance of cell polarity
- smoothened signaling pathway
- ovarian follicle development
- cellular response to indole-3-methanol
- positive regulation of smoothened signaling pathway
- negative regulation of cell motility
- gap junction assembly
- axon regeneration
cellular COMPONENT
Where in the cell the gene product is active
- plasma membrane
- nucleus
- adherens junction
- cell-cell junction
- focal adhesion
- acrosomal vesicle
- intracellular membrane-bounded organelle
- zonula adherens
- actin cytoskeleton
- cytosol
- intercalated disc
- cell junction
- catenin complex
- flotillin complex
- lamellipodium
molecular FUNCTION
What the gene product does at the molecular level
- actin filament binding
- gamma-catenin binding
- identical protein binding
- RNA binding
- protein binding
- cadherin binding
- structural molecule activity
- vinculin binding
- beta-catenin binding