Fbn1 Gene Summary [Mouse]
This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Homozygous knockout mice for this gene exhibit impaired aortic development and early postnatal death, which was attributed to a deficiency in the fibrillin-1 protein. Mice with a hypomorphic allele of this gene exhibit impaired glucose homeostasis, likely due to a reduction in serum asprosin levels. [provided by RefSeq, Apr 2016]
Details
| Type | Protein Coding |
| Official Symbol | Fbn1 |
| Official Name | fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489] |
| Ensembl ID | ENSMUSG00000027204 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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
phenotypes
- abnormal T-helper 1 cell morphology
- abnormal alveolar pore morphology
- abnormal aorta elastic fiber morphology
- abnormal aorta elastic tissue morphology
- abnormal aorta elastin content
- abnormal aorta morphology
- abnormal aorta tunica adventitia morphology
- abnormal aorta tunica intima morphology
- abnormal aorta tunica media morphology
- abnormal aorta wall morphology
- abnormal blood vessel morphology
- abnormal bone remodeling
- abnormal bronchiole morphology
- abnormal cardiovascular system morphology
- abnormal cartilage morphology
- abnormal costal cartilage morphology
- abnormal cutaneous collagen fibril morphology
- abnormal cutaneous microfibril morphology
- abnormal dermal layer morphology
- abnormal dermis papillary layer morphology
- abnormal dermis reticular layer collagen network
- abnormal dermis reticular layer morphology
- abnormal diaphragm morphology
- abnormal heart left atrium morphology
- abnormal heart left ventricle morphology
- abnormal heart morphology
- abnormal heart right ventricle morphology
- abnormal hypodermis morphology
- abnormal intercostal muscle morphology
- abnormal interleukin secretion
- abnormal lung development
- abnormal lung morphology
- abnormal lung vasculature morphology
- abnormal mitral valve morphology
- abnormal neuron physiology
- abnormal pelvic girdle bone morphology
- abnormal postnatal growth/weight/body size
- abnormal pulmonary alveolus morphology
- abnormal pulmonary alveolus wall morphology
- abnormal pulmonary interalveolar septum morphology
- abnormal pulmonary neuroendocrine body morphology
- abnormal respiration
- abnormal respiratory bronchiole morphology
- abnormal rib morphology
- abnormal skeletal muscle fiber morphology
- abnormal skeleton morphology
- abnormal skin condition
- abnormal skin morphology
- abnormal skin physiology
- abnormal skin tensile strength
- abnormal skin turgor
- abnormal tendon morphology
- abnormal tendon sheath morphology
- abnormal thrombosis
- abnormal tracheal cartilage morphology
- abnormal urinary bladder morphology
- abnormal urinary bladder physiology
- abnormal uterine NK cell morphology
- alveolitis
- aortic aneurysm
- aortic dissection
- aortic elastic tissue lesions
- aortic sinus aneurysm
- aortitis
- brachyphalangia
- calcified artery
- cardiac fibrosis
- cardiac hypertrophy
- decreased body fat mass
- decreased body weight
- decreased bone mineral density
- decreased bone trabecula number
- decreased bone volume
- decreased circulating leptin level
- decreased energy expenditure
- decreased food intake
- decreased lean body mass
- decreased length of long bones
- decreased subcutaneous adipose tissue amount
- decreased susceptibility to diet-induced obesity
- diaphragmatic hernia
- dilated heart atrium
- dilated heart right ventricle
- dilated pulmonary alveolar ducts
- embryonic lethality between implantation and somite formation complete penetrance
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality during organogenesis incomplete penetrance
- embryonic lethality complete penetrance
- emphysema
- enlarged chest
- enlarged cranium
- enlarged heart
- enlarged lumbar vertebrae
- enlarged thoracic cavity
- heart right ventricle hypertrophy
- hemopericardium
- hemorrhage
- hemothorax
- hunched posture
- impaired lung alveolus development
- increased B cell number
- increased anti-nuclear antigen antibody level
- increased aorta wall thickness
- increased autoantibody level
- increased interleukin-13 secretion
- increased interleukin-9 secretion
- increased length of long bones
- increased lung compliance
- increased mast cell number
- increased number of pulmonary neuroendocrine bodies
- increased plasma cell number
- increased solitary pulmonary neuroendocrine cell number
- increased susceptibility to type IV hypersensitivity reaction
- increased total lung capacity
- kyphosis
- long mandible
- long ribs
- lung hemorrhage
- lung inflammation
- mitral valve prolapse
- overexpanded pulmonary alveoli
- polyuria
- postnatal lethality complete penetrance
- premature death
- respiratory distress
- short metacarpal bones
- short radius
- short tibia
- short ulna
- skin fibrosis
- thick dermal layer
- thick hypodermis
- thick pulmonary interalveolar septum
- thick skin
- tight skin
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 mouse 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