FBLN1 (Fibulin-1)
Extracellular matrix glycoprotein involved in elastic fiber formation and cell adhesion
Gene Information Card
| Symbol | FBLN1 |
|---|---|
| Full Name | Fibulin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 2192 ncbi.nlm.nih.gov/gene/2192 |
| Ensembl ID | ENSG00000100242 |
| UniProt ID | P23142 |
| OMIM ID | 135820 |
| HGNC ID | 3600 |
| Aliases | FIBL1, FBLN, FIBL-1 |
Description
FBLN1 encodes fibulin-1, a secreted extracellular matrix glycoprotein that binds calcium and mediates interactions between elastic fibers and other matrix components. It plays roles in cell adhesion, migration, and tissue organization. Alternative splicing generates multiple isoforms (A, B, C, D) with distinct functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Age-related macular degeneration | Altered extracellular matrix composition and elastic fiber integrity | ClinVar, OMIM |
| Coronary artery disease | Dysregulation of vascular matrix remodeling | NCBI Gene, OMIM |
| Cancer (various) | Aberrant expression affecting tumor stroma and metastasis | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 9.8 | Medium |
| Placenta | 15.2 | High |
| Liver | 6.1 | Low |
| Kidney | 8.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 14.3 | Endothelial cells |
| A549 | 7.2 | Lung carcinoma |
| MCF7 | 5.6 | Breast cancer |
| HEK293 | 10.1 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | Missense | <0.01% | Altered calcium binding |
| c.567_569del | In-frame deletion | <0.01% | Disrupted EGF-like domain |
| c.890C>T | Nonsense | <0.01% | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay
Gain of Function (GOF)
Not well documented; some missense variants may alter matrix interactions
Dominant Negative (DN)
Possible for certain missense variants affecting dimerization or ligand binding
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • extracellular matrix structural constituent |
| • cell adhesion | • elastic fiber assembly |
| • angiogenesis |
Pathways
• ECM-receptor interaction
• Focal adhesion
• Elastic fiber formation
Protein Summary
Fibulin-1 is a 703-amino acid glycoprotein with an N-terminal signal peptide, an anaphylatoxin-like domain, nine EGF-like calcium-binding domains, and a C-terminal fibulin-type module. It localizes to the extracellular matrix and basement membranes, interacting with fibronectin, laminin, and tropoelastin to support elastic fiber integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBLN1 Knockout HEK293 Cell Line | EDJ-KQ4576 | Human | 2192 | Details Get a Quote |
| FBLN1 Knockout HeLa Cell Line | EDJ-KQ25977 | Human | 2192 | Details Get a Quote |
| FBLN1 Knockout A-549 Cell Line | EDJ-KQ27232 | Human | 2192 | Details Get a Quote |
| FBLN1 Knockout HCT 116 Cell Line | EDJ-KQ27233 | Human | 2192 | Details Get a Quote |
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