EPCAM Gene Summary [Human]
This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]
Details
| Type | Protein Coding |
| Official Symbol | EPCAM |
| Official Name | epithelial cell adhesion molecule [Source:HGNC Symbol;Acc:HGNC:11529] |
| Ensembl ID | ENSG00000119888 |
| Bio databases IDs | |
| Aliases | epithelial cell adhesion molecule, trophoblast cell surface antigen 1 |
| Synonyms | Ber-Ep4, CD326, Coenzyme Q6, DIAR5, EGP, EGP-2, EGP314, EGP40, EpCAM1, epithelial cell adhesion molecule, ESA, GA733-2, gp40, HNPCC8, KS1/4, KSA, Ly74, LYNCH8, M4S1, MIC18, MK-1, MOC-31, Tacsd1, TACSTD1, TROP1 |
| Species | Human, Homo sapiens |
| Orthologies |
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 in human EPCAM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- binding protein
- cytoplasmic domain
- EpCAM intercellular domain
- Epithelial cell adhesion molecule N-terminal domain
- TY
- cell adhesion molecule binding
- transmembrane domain
- intracellular domain
- cadherin binding
- protein binding
- EGF-like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- metastasis
- breast carcinoma
- epithelial cancer
- epithelial neoplasia
- cancer
- digestive system cancer
- liver cancer
- abdominal cancer
- acute myeloid leukemia
role in cell
- expression in
- growth
- phosphorylation in
- apoptosis
- cell proliferation
- activation in
- proliferation
- transcription in
- morphology
- migration
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
- tetraspanin-enriched microdomain
- cell surface
- cell borders
- intracellular space
- cellular membrane
- intercellular junctions
- cell-cell contacts
- basal cell surfaces
- lateral cell surfaces
- apical membrane
- basolateral membrane
- lateral plasma membrane
- endolysosomes
- tight junctions
- lateral cell-cell contacts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPCAM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- stem cell differentiation
- ureteric bud development
- positive regulation of stem cell proliferation
- positive regulation of cell proliferation
- signal transduction involved in regulation of gene expression
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of cell-cell adhesion mediated by cadherin
Cellular Component
Where in the cell the gene product is active
- tight junction
- lateral plasma membrane
- extracellular vesicular exosome
- basolateral plasma membrane
- plasma membrane
- apical plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- protein binding