FBLN1 Gene Summary [Human]
Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | FBLN1 |
| Official Name | fibulin 1 [Source:HGNC Symbol;Acc:HGNC:3600] |
| Ensembl ID | ENSG00000077942 |
| Bio databases IDs | |
| Aliases | fibulin 1 |
| Synonyms | FBLN, FIBL1, fibulin 1, LOC100362423 |
| 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 FBLN1 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
- calcium ion binding
- extracellular matrix structural constituent
- protein binding
- protease activator
- fibronectin binding
- identical protein binding
- EGF-like domain
- EGF_CA
- binding protein
- integrin binding
- ANATO
- 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
- epithelial cancer
- breast cancer
- hepatocellular carcinoma
- age-related macular degeneration
- colorectal cancer
- bleeding
- ventricular septal defect
- liver cancer
- androgenic alopecia
- hypoplasia
role in cell
- proliferation
- apoptosis
- adhesion
- expression in
- abnormal morphology
- organization
- development
- colony formation
- morphology
- deformation
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
- detergent resistant lipid raft fraction
- cell surface
- extracellular matrix
- exosomes
- plasma
- basement membrane
- cartilage matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FBLN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- integrin-mediated signaling pathway
- blood coagulation, fibrin clot formation
- negative regulation of stem cell proliferation
- negative regulation of protein phosphorylation
- negative regulation of cell adhesion
- negative regulation of ERK1 and ERK2 cascade
- negative regulation of substrate adhesion-dependent cell spreading
- negative regulation of cell motility
- extracellular matrix organization
- embryo implantation
Cellular Component
Where in the cell the gene product is active
- basement membrane
- extracellular space
- extracellular vesicular exosome
- elastic fiber
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- peptidase activator activity
- fibrinogen binding
- protein binding
- calcium ion binding
- fibronectin binding
- integrin binding
- extracellular matrix structural constituent