Gene Information
Gene Symbol
Entrez Gene ID
Gene Name
Fibrillin 1
Chromosomal Location
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. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
RefSeq DNA
RefSeq mRNA

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001501 Biological process Skeletal system development IMP 8188302
GO:0007507 Biological process Heart development IMP 15781745
GO:0033627 Biological process Cell adhesion mediated by integrin IDA 12807887, 17158881
GO:0043010 Biological process Camera-type eye development IEP 25406291
GO:0045671 Biological process Negative regulation of osteoclast differentiation IDA 24039232
Protein Information
Protein Name
Fibrillin-1, asprosin, epididymis secretory sperm binding protein, fibrillin 15, fibrillin-1 preproprotein
[Fibrillin-1]: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structural support. In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin. In addition, microfibrils can occur as elastin-independent networks in tissues such as the ciliary zonule, tendon, cornea and glomerulus where they provide tensile strength and have anchoring roles. Fibrillin-1 also plays a key role in tissue homeostasis through specific interactions with growth factors, such as the bone morphogenetic proteins (BMPs), growth and differentiation factors (GDFs) and latent transforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein and proteoglycan components (PubMed:27026396). Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity). Negatively regulates osteoclastogenesis by binding and sequestering an osteoclast differentiation and activation factor TNFSF11. This leads to disruption of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated nuclear translocation and activation of transcription factor NFATC1 which regulates genes important for osteoclast differentiation and function (PubMed:24039232). Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction has an important role in the assembly of microfibrils (PubMed:11461921). .; [Asprosin]: Hormone that targets the liver to increase plasma glucose levels. Secreted by white adipose tissue and circulates in the plasma. Acts in response to fasting and promotes blood glucose elevation by binding to the surface of hepatocytes. Promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation.
Refseq Proteins
Pfam Accession Pfam ID
PF12662 cEGF
PF07645 EGF_CA
PF00683 TB

TGF-beta signaling pathway


Degradation of the extracellular matrix
Elastic fibre formation
Molecules associated with elastic fibres
Integrin cell surface interactions
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation


Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Overlap Connective Tissue Disease
Aortic Aneurysm
Aortic Rupture
Aortic root dilatation
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Marfan Syndrome
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
Insulin resistance, Obesity 
Rotterdam Criteria 
41 PCOS Patients and 66 control and 53 T2DM patients 
This study analyzed the potential roles of plasma asprosin in healthy, T2DM, and PCOS females and demonstrated that plasma asprosin increased in patients with PCOS and was associated with various metabolic parameters and sex related hormone profiles. Moreover, blood asprosin might play a vital role in glucose homeostasis, insulin obesity, sex-related hormone metabolism, or inflammation homeostasis, in females with metabolic-related diseases. 

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