CCBE1 Gene Summary [Human]
This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | CCBE1 |
| Official Name | collagen and calcium binding EGF domains 1 [Source:HGNC Symbol;Acc:HGNC:29426] |
| Ensembl ID | ENSG00000183287 |
| Bio databases IDs | |
| Aliases | collagen and calcium binding EGF domains 1 |
| Synonyms | 4933426F18RIK, 9430093N24Rik, collagen and calcium binding EGF domains 1, HKLLS1, mKIAA1983, RGD1307670 |
| 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 CCBE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protease binding
- collagen binding
- EGF domain
- protein binding
- Coagulation Factor Xa inhibitory site
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- edema
- COVID-19
- anemia
- Hennekam lymphangiectasia-lymphedema syndrome type 1
- major depression
- hypothyroidism
- congenital heart disease
- non-small cell lung cancer
- cyanosis
- aldosterone producing adrenocortical adenoma
role in cell
- proliferation
- apoptosis
- budding
- number
- function
- migration
- invasion 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.
- Extracellular Space
- extracellular matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CCBE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- respiratory system process
- positive regulation of vascular endothelial growth factor signaling pathway
- lymphangiogenesis
- venous blood vessel morphogenesis
- sprouting angiogenesis
- positive regulation of protein processing
- positive regulation of endothelial cell migration
- positive regulation of angiogenesis
- lung development
- positive regulation vascular endothelial growth factor production
Cellular Component
Where in the cell the gene product is active
- extracellular space
- collagen
- extracellular matrix
Molecular Function
What the gene product does at the molecular level
- protein binding
- collagen binding
- calcium ion binding
- protease binding