SCUBE3 Gene Summary [Human]
This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Details
| Type | Protein Coding |
| Official Symbol | SCUBE3 |
| Official Name | signal peptide, CUB domain and EGF like domain containing 3 [Source:HGNC Symbol;Acc:HGNC:13655] |
| Ensembl ID | ENSG00000146197 |
| Bio databases IDs | |
| Aliases | signal peptide, CUB domain and EGF like domain containing 3 |
| Synonyms | CEGF3, D030038I21Rik, signal peptide, CUB domain and EGF like domain containing 3, signal peptide, CUB domain, EGF-like 3, SSFSC2 |
| 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 SCUBE3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Complement Clr-like EGF-like
- Tyrosine-protein kinase ephrin type A/B receptor-like
- cytokine binding
- calcium-binding EGF-like domain
- protein binding
- receptor binding
- identical protein binding
- Tumor necrosis factor receptor superfamily (TNFRSF)
- EGF-like domain
- EGF_CA
- CUB
- EGF domain
- Coagulation Factor Xa inhibitory site
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- tumorigenesis
- metastasis
- short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
- non-small cell lung cancer
- short stature, facial dysmorphism, and skeletal anomalies without cardiac anomalies 2
- lung metastasis
- lung cancer
role in cell
- expression in
- phosphorylation in
- growth
- differentiation
- tubulation
- invasiveness
- signaling in
- epithelial-mesenchymal transition
- mobility
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 surface
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SCUBE3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of BMP signaling pathway
- signal transduction
- positive regulation of osteoblast differentiation
Cellular Component
Where in the cell the gene product is active
- extracellular space
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- BMP binding
- identical protein binding
- protein binding
- calcium ion binding
- BMP receptor binding