SCUBA

FBN1 — Fibrillin 1

FBN1 belongs to a gene co-expression module in 4 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.

FBN1's module in each cell type

Cell typeModuleShares the module with
EndothelialIL-13/STAT6 Signaling
Inflammation
ABLIM1, ARL2BP, ASRGL1, ATP8B1, BMP1, BMPR2, CLIP1, CMIP +18 moreView in SCUBA
FibroblastsCollagen ECM Production
ECM production
AEBP1, ANGPTL2, ANTXR1, CERCAM, CLTC, COL1A1, COL1A2, COL3A1 +12 moreView in SCUBA
Lymphatic endothelialHypoxia Response
Stress
CNTNAP3B, ENOSF1, FKBP5, FOXP2, HIF3A, HMCN1, KAT2B, MAP3K1 +11 moreView in SCUBA
Smooth muscle cellsMatrix-integrin interaction
ECM remodeling
C1S, EML1, ITGA1, ITGAV, LRP1, P4HA2, VMP1View in SCUBA

About the gene

SynonymsFBN, MASS, MFS1, OCTD, SGS, WMS
Chromosome15: 48408313-48645721
Predicted locationSecreted
Essential geneNo
Protein classDisease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
Molecular functionHeparin-binding, Hormone

Function

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. 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. 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. Mediates cell adhesion via its binding to cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1. Binds heparin and this interaction has an important role in the assembly of microfibrils. Adipokine secreted by white adipose tissue that plays an important regulatory role in the glucose metabolism of liver, muscle and pancreas. Hormone that targets the liver in response to fasting to increase plasma glucose levels. Binds the olfactory receptor OR4M1 at the surface of hepatocytes and promotes hepatocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation. May act as a regulator of adaptive thermogenesis by inhibiting browning and energy consumption, while increasing lipid deposition in white adipose tissue (By similarity). Also acts as an orexigenic hormone that increases appetite: crosses the blood brain barrier and exerts effects on the hypothalamus (By similarity). In the arcuate nucleus of the hypothalamus, asprosin directly activates orexigenic AgRP neurons and indirectly inhibits anorexigenic POMC neurons, resulting in appetite stimulation (By similarity). Activates orexigenic AgRP neurons via binding to the olfactory receptor OR4M1 (By similarity). May also play a role in sperm motility in testis via interaction with OR4M1 receptor (By similarity).

Human Protein Atlas · Open Targets · UniProt

Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.