Fbn1 Gene Summary [Rat]
Predicted to enable several functions, including heparin binding activity; identical protein binding activity; and signaling receptor binding activity. Predicted to be an extracellular matrix structural constituent. Involved in cellular response to insulin-like growth factor stimulus; cellular response to transforming growth factor beta stimulus; and metanephros development. Located in collagen-containing extracellular matrix and extracellular region. Biomarker of glomerulonephritis; hypertension; liver cirrhosis; mesangial proliferative glomerulonephritis; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Orthologous to human FBN1 (fibrillin 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Fbn1 |
| Official Name | fibrillin 1 [Source:RGD Symbol;Acc:620908] |
| Ensembl ID | ENSRNOG00000007302 |
| Bio databases IDs | |
| Aliases | fibrillin 1 |
| Synonyms | ACMICD, B430209H23, ECTOL1, FBN, Fib-1, Fibrilin-1, fibrillin 1, FNB1, GPHYSD2, MFLS, MFS1, OCTD, SGS, SSKS, Tsk, WMS, WMS2 |
| Species | Rat, Rattus norvegicus |
| 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 rat Fbn1 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-binding EGF-like domain
- RGD motif
- calcium ion binding
- extracellular matrix structural constituent
- TB domain
- hormone
- protein binding
- identical protein binding
- fibrillin-1 hybrid domain
- EGF-like domain
- proline rich domain
- unique protein domain
- EGF_CA
- binding protein
- integrin binding
- EGF domain
- heparin binding
- hybrid domain
- Fibrillin 1 unique N-terminal domain
- Coagulation Factor Xa inhibitory site
- EGF repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- endometriosis
- ulcerative colitis
- bleeding
- hyperplasia
- colorectal cancer
- myopathy
- peripheral T-cell lymphoma
- exfoliative glaucoma
- classic Marfan syndrome
role in cell
- expression in
- phosphorylation in
- binding in
- growth
- apoptosis
- proliferation
- adhesion
- cell spreading
- differentiation
- activation
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
- filamentous network
- myofilaments
- endoplasmic reticulum lumen
- acrosome
- microfibrils
- fibrils
- extracellular matrix
- basement membrane
- glomerular basement membrane
- cartilage matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Fbn1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sequestering of TGFbeta in extracellular matrix
- signal transduction
- sequestering of BMP in extracellular matrix
- anatomical structure morphogenesis
- lung alveolus development
- cellular response to transforming growth factor beta stimulus
- heart development
- cell adhesion mediated by integrin
- skeletal system development
- metanephros development
- embryonic eye morphogenesis
- camera-type eye development
- negative regulation of osteoclast differentiation
- gene expression
- negative regulation of osteoclast development
- post-embryonic eye morphogenesis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- extracellular space
- basement membrane
- microfibril
- extracellular matrix
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- calcium ion binding
- integrin binding
- heparin binding
- extracellular matrix constituent conferring elasticity
- extracellular matrix structural constituent
- hormone activity