FBN1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0035582Biological processsequestering of BMP in extracellular matrix
GO_1990314Biological processcellular response to insulin-like growth factor stimulus
GO_0071560Biological processcellular response to transforming growth factor beta stimulus
GO_0033627Biological processcell adhesion mediated by integrin
GO_0007507Biological processheart development
GO_2001205Biological processnegative regulation of osteoclast development
GO_0007165Biological processsignal transduction
GO_0001656Biological processmetanephros development
GO_0035583Biological processsequestering of TGFbeta in extracellular matrix
GO_0048050Biological processpost-embryonic eye morphogenesis
GO_0009653Biological processanatomical structure morphogenesis
GO_0001501Biological processskeletal system development
GO_0043010Biological processcamera-type eye development
GO_0010467Biological processgene expression
GO_0048048Biological processembryonic eye morphogenesis
GO_0048286Biological processlung alveolus development
GO_0045671Biological processnegative regulation of osteoclast differentiation
GO_0005615Cellular componentextracellular space
GO_0005576Cellular componentextracellular region
GO_0001527Cellular componentmicrofibril
GO_0062023Cellular componentcollagen-containing extracellular matrix
GO_0031012Cellular componentextracellular matrix
GO_0005788Cellular componentendoplasmic reticulum lumen
GO_0005604Cellular componentbasement membrane
GO_0030023Molecular functionextracellular matrix constituent conferring elasticity
GO_0008201Molecular functionheparin binding
GO_0044877Molecular functionprotein-containing complex binding
GO_0005201Molecular functionextracellular matrix structural constituent
GO_0005179Molecular functionhormone activity
GO_0042802Molecular functionidentical protein binding
GO_0005178Molecular functionintegrin binding
GO_0005509Molecular functioncalcium ion binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameFBN1
Protein nameFibrillin 1
Fibrillin-1 preproprotein
Alternative protein FBN1
Fibrillin-1 [Cleaved into: Asprosin]
SynonymsFBN
DescriptionFUNCTION: [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 . 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 . .; FUNCTION: [Asprosin]: 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). .

AccessionsF6U495
P35555
ENST00000560355.1
H0YND0
Q75N89
L8E6V0
ENST00000316623.10
A0A6I8PL22
ENST00000674301.2
Q75N88
A0A1B1PFX5
ENST00000559133.6
H0YN80
L8E775
ENST00000537463.6