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Protein

Fibrillin-1

Gene

FBN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 Ca2+ 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).1 PublicationBy similarity6 Publications
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 hepathocytes. Promotes hepathocyte glucose release by activating the protein kinase A activity in the liver, resulting in rapid glucose release into the circulation.1 Publication

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • extracellular matrix constituent conferring elasticity Source: UniProtKB
  • extracellular matrix structural constituent Source: UniProtKB
  • heparin binding Source: UniProtKB
  • hormone activity Source: UniProtKB
  • integrin binding Source: UniProtKB
  • protein complex binding Source: UniProtKB

GO - Biological processi

  • activation of protein kinase A activity Source: UniProtKB
  • camera-type eye development Source: UniProtKB
  • cell adhesion mediated by integrin Source: UniProtKB
  • cellular response to insulin-like growth factor stimulus Source: Ensembl
  • cellular response to transforming growth factor beta stimulus Source: Ensembl
  • embryonic eye morphogenesis Source: UniProtKB
  • extracellular matrix disassembly Source: Reactome
  • extracellular matrix organization Source: Reactome
  • glucose homeostasis Source: UniProtKB
  • glucose metabolic process Source: UniProtKB
  • heart development Source: UniProtKB
  • metanephros development Source: Ensembl
  • negative regulation of osteoclast development Source: UniProtKB
  • negative regulation of osteoclast differentiation Source: UniProtKB
  • post-embryonic eye morphogenesis Source: UniProtKB
  • protein kinase A signaling Source: UniProtKB
  • regulation of cellular response to growth factor stimulus Source: GO_Central
  • sequestering of BMP in extracellular matrix Source: BHF-UCL
  • sequestering of TGFbeta in extracellular matrix Source: BHF-UCL
  • skeletal system development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Hormone

Keywords - Ligandi

Calcium, Heparin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000166147-MONOMER.
ReactomeiR-HSA-1474228. Degradation of the extracellular matrix.
R-HSA-1566948. Elastic fibre formation.
R-HSA-2129379. Molecules associated with elastic fibres.
R-HSA-216083. Integrin cell surface interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Fibrillin-1
Cleaved into the following chain:
Asprosin1 Publication
Gene namesi
Name:FBN1
Synonyms:FBN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:3603. FBN1.

Subcellular locationi

  • Secreted 1 Publication

  • Note: Fibrillin-1 and Asprosin chains are still linked together during the secretion from cells, but are subsequentely separated by furin (PubMed:24982166).1 Publication
Asprosin :
Fibrillin-1 :

GO - Cellular componenti

  • basement membrane Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: UniProtKB
  • extracellular space Source: UniProtKB
  • intracellular Source: GOC
  • microfibril Source: UniProtKB
  • proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Marfan syndrome (MFS)42 Publications
The disease is caused by mutations affecting the gene represented in this entry. The majority of the more than thousand mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.
Disease descriptionA hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.
See also OMIM:154700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02385920Y → C in MFS. 1 Publication1
Natural variantiVAR_07598555G → E in MFS. 1 Publication1
Natural variantiVAR_07598657N → D in MFS. 1 Publication1
Natural variantiVAR_01796762R → C in MFS; also in a patient with ectopia lentis and retinal detachment. 1 PublicationCorresponds to variant rs25403dbSNPEnsembl.1
Natural variantiVAR_06598180C → G in MFS. 1 Publication1
Natural variantiVAR_01796889C → F in MFS. 1 PublicationCorresponds to variant rs112660651dbSNPEnsembl.1
Natural variantiVAR_075989100C → Y in MFS. 1 Publication1
Natural variantiVAR_002276111C → R in MFS. 1 Publication1
Natural variantiVAR_017969114R → C in MFS. 1 Publication1
Natural variantiVAR_002277122R → C in MFS. 4 PublicationsCorresponds to variant rs137854467dbSNPEnsembl.1
Natural variantiVAR_023860123C → Y in MFS. 2 Publications1
Natural variantiVAR_002278129C → Y in MFS; severe neonatal. 2 Publications1
Natural variantiVAR_075991136C → S in MFS. 1 Publication1
Natural variantiVAR_017971154C → S in MFS. 1 Publication1
Natural variantiVAR_002279166C → F in MFS. 1 Publication1
Natural variantiVAR_002280166C → S in MFS. 1 Publication1
Natural variantiVAR_023861177C → R in MFS. 1 PublicationCorresponds to variant rs363853dbSNPEnsembl.1
Natural variantiVAR_075994177C → S in MFS. 1 Publication1
Natural variantiVAR_075995177C → Y in MFS. 1 Publication1
Natural variantiVAR_075996214G → S in MFS. 2 Publications1
Natural variantiVAR_002281217W → G in MFS. 2 Publications1
Natural variantiVAR_075998219H → Q in MFS. 1 Publication1
Natural variantiVAR_023862224C → R in MFS. 1 Publication1
Natural variantiVAR_017972240R → C in MFS and ECTOL1. 4 PublicationsCorresponds to variant rs137854480dbSNPEnsembl.1
Natural variantiVAR_075999248 – 2871Missing in MFS. 1 PublicationAdd BLAST2624
Natural variantiVAR_076000348 – 2871Missing in MFS. 1 PublicationAdd BLAST2524
Natural variantiVAR_076001351 – 2871Missing in MFS. 1 PublicationAdd BLAST2521
Natural variantiVAR_076003365C → R in MFS. 1 Publication1
Natural variantiVAR_076005366 – 2871Missing in MFS. 1 PublicationAdd BLAST2506
Natural variantiVAR_017973366W → C in MFS. 1 Publication1
Natural variantiVAR_076006429 – 2871Missing in MFS. 2 PublicationsAdd BLAST2443
Natural variantiVAR_023863439R → G in MFS. 1 Publication1
Natural variantiVAR_076007449V → I in MFS. 1 Publication1
Natural variantiVAR_076008474C → W in MFS. 1 Publication1
Natural variantiVAR_002282476C → G in MFS. 1 Publication1
Natural variantiVAR_076009488C → R in MFS. 1 Publication1
Natural variantiVAR_002283490D → Y in MFS. 1 Publication1
Natural variantiVAR_065982499C → Y in MFS. 1 Publication1
Natural variantiVAR_010776504C → F in MFS. 1 Publication1
Natural variantiVAR_023864507Missing in MFS. 1 Publication1
Natural variantiVAR_023865541C → Y in MFS. 1 Publication1
Natural variantiVAR_002284545R → C in MFS and ECTOL1. 3 Publications1
Natural variantiVAR_076011546C → W in MFS. 1 Publication1
Natural variantiVAR_002285548N → I in MFS. 1 PublicationCorresponds to variant rs137854462dbSNPEnsembl.1
Natural variantiVAR_017974560G → S in MFS. 1 Publication1
Natural variantiVAR_076012565 – 2871Missing in MFS. 1 PublicationAdd BLAST2307
Natural variantiVAR_017975570C → Y in MFS. 1 Publication1
Natural variantiVAR_076013576C → Y in MFS. 1 Publication1
Natural variantiVAR_076014582C → R in MFS. 1 Publication1
Natural variantiVAR_002286587C → Y in MFS. 2 Publications1
Natural variantiVAR_017976592G → D in MFS. 1 Publication1
Natural variantiVAR_017977596C → Y in MFS. 1 Publication1
Natural variantiVAR_017978598C → W in MFS. 1 Publication1
Natural variantiVAR_065983611C → R in MFS. 1 Publication1
Natural variantiVAR_065984617C → G in MFS. 1 Publication1
Natural variantiVAR_076016623C → F in MFS. 1 Publication1
Natural variantiVAR_002287627R → C in MFS; enhances proteolytic degradation. 5 Publications1
Natural variantiVAR_023867629 – 633Missing in MFS. 1 Publication5
Natural variantiVAR_023868635Y → C in MFS. 2 Publications1
Natural variantiVAR_023869636R → I in MFS. 1 Publication1
Natural variantiVAR_017979652C → S in MFS. 1 Publication1
Natural variantiVAR_017980654D → N in MFS. 2 Publications1
Natural variantiVAR_002288661C → R in MFS. 1 Publication1
Natural variantiVAR_017982681S → Y in MFS. 1 Publication1
Natural variantiVAR_017983683C → R in MFS. 1 Publication1
Natural variantiVAR_076020684C → Y in MFS. 1 Publication1
Natural variantiVAR_017984685C → W in MFS. 2 PublicationsCorresponds to variant rs140603dbSNPEnsembl.1
Natural variantiVAR_065985685C → Y in MFS. 1 Publication1
Natural variantiVAR_076021699C → S in MFS. 1 Publication1
Natural variantiVAR_002289705A → T in MFS. 2 Publications1
Natural variantiVAR_002290711C → Y in MFS. 2 Publications1
Natural variantiVAR_076022721G → C in MFS. 1 Publication1
Natural variantiVAR_002291723D → A in MFS. 1 PublicationCorresponds to variant rs137854463dbSNPEnsembl.1
Natural variantiVAR_017985723D → V in MFS. 1 Publication1
Natural variantiVAR_076023727C → Y in MFS. 1 Publication1
Natural variantiVAR_017986734C → F in MFS. 1 Publication1
Natural variantiVAR_002292746Y → C in MFS. 1 Publication1
Natural variantiVAR_017987748C → Y in MFS. 2 Publications1
Natural variantiVAR_002293750C → G in MFS; enhances proteolytic degradation. 2 Publications1
Natural variantiVAR_017988776C → G in MFS. 1 Publication1
Natural variantiVAR_017989776C → Y in MFS. 1 Publication1
Natural variantiVAR_017990781C → R in MFS. 2 Publications1
Natural variantiVAR_023870781C → Y in MFS. 1 Publication1
Natural variantiVAR_065986790C → Y in MFS. 1 Publication1
Natural variantiVAR_065987811C → Y in MFS. 1 Publication1
Natural variantiVAR_076025816C → R in MFS. 1 Publication1
Natural variantiVAR_017991816C → S in MFS. 1 Publication1
Natural variantiVAR_076026828F → C in MFS. 1 Publication1
Natural variantiVAR_023871832C → Y in MFS. 2 Publications1
Natural variantiVAR_065988853C → S in MFS. 1 Publication1
Natural variantiVAR_076027861 – 2871Missing in MFS. 2 PublicationsAdd BLAST2011
Natural variantiVAR_002294862C → R in MFS. 1 Publication1
Natural variantiVAR_076028880G → S in MFS. 3 Publications1
Natural variantiVAR_076029882A → V in MFS and ECTOL1. 1 Publication1
Natural variantiVAR_076030884G → E in MFS. 1 Publication1
Natural variantiVAR_023872890C → G in MFS. 1 Publication1
Natural variantiVAR_017992890C → R in MFS. 1 Publication1
Natural variantiVAR_017993908C → R in MFS. 1 Publication1
Natural variantiVAR_076031908C → Y in MFS. 1 Publication1
Natural variantiVAR_076032910D → H in MFS. 1 Publication1
Natural variantiVAR_017994913E → G in MFS. 1 Publication1
Natural variantiVAR_076033921 – 2871Missing in MFS. 1 PublicationAdd BLAST1951
Natural variantiVAR_017995921C → G in MFS. 1 Publication1
Natural variantiVAR_002295926C → R in MFS; enhances proteolytic degradation. 2 Publications1
Natural variantiVAR_065989926C → Y in MFS. 1 Publication1
Natural variantiVAR_076037974R → C in MFS. 1 Publication1
Natural variantiVAR_076038976R → H in MFS. 1 Publication1
Natural variantiVAR_002296984V → I in MFS. 1 Publication1
Natural variantiVAR_018319985G → E in MFS; atypical. 1 PublicationCorresponds to variant rs137854477dbSNPEnsembl.1
Natural variantiVAR_017996985G → R in MFS. 2 Publications1
Natural variantiVAR_076040994 – 2871Missing in MFS. 1 PublicationAdd BLAST1878
Natural variantiVAR_002297996C → R in MFS. 1 PublicationCorresponds to variant rs140592dbSNPEnsembl.1
Natural variantiVAR_0760411008C → Y in MFS. 1 Publication1
Natural variantiVAR_0022981013G → R in MFS; severe neonatal. 4 PublicationsCorresponds to variant rs140593dbSNPEnsembl.1
Natural variantiVAR_0022991023K → N in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0760441032C → Y in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0760451042G → S in MFS. 1 Publication1
Natural variantiVAR_0023001043K → R in MFS. 1 PublicationCorresponds to variant rs137854472dbSNPEnsembl.1
Natural variantiVAR_0179971044C → Y in MFS. 1 Publication1
Natural variantiVAR_0023011048I → T in MFS; severe neonatal. 2 Publications1
Natural variantiVAR_0023021048Missing in MFS. 1 Publication1
Natural variantiVAR_0023031053C → R in MFS. 1 Publication1
Natural variantiVAR_0023041055C → G in MFS; neonatal. 2 Publications1
Natural variantiVAR_0179981055C → W in MFS. 1 Publication1
Natural variantiVAR_0179991055C → Y in MFS. 1 Publication1
Natural variantiVAR_0238731058G → D in MFS. 1 Publication1
Natural variantiVAR_0023051058G → GC in MFS. 1 Publication1
Natural variantiVAR_0645031068C → G in MFS; neonatal form. 1 Publication1
Natural variantiVAR_0023061072D → G in MFS. 1 Publication1
Natural variantiVAR_0023071073E → K in MFS; severe neonatal. 2 PublicationsCorresponds to variant rs137854478dbSNPEnsembl.1
Natural variantiVAR_0023081074C → R in MFS; severe neonatal. 2 PublicationsCorresponds to variant rs137854465dbSNPEnsembl.1
Natural variantiVAR_0760461074C → Y in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0023091086C → W in MFS. 1 Publication1
Natural variantiVAR_0760481088N → I in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0659901090P → S in MFS. 1 Publication1
Natural variantiVAR_0180001101Y → C in MFS. 3 Publications1
Natural variantiVAR_0238741113D → V in MFS. 1 Publication1
Natural variantiVAR_0023101117C → G in MFS. 1 Publication1
Natural variantiVAR_0760491117C → R in MFS. 1 Publication1
Natural variantiVAR_0023111117C → Y in MFS. 2 PublicationsCorresponds to variant rs137854470dbSNPEnsembl.1
Natural variantiVAR_0760501125 – 2871Missing in MFS. 2 PublicationsAdd BLAST1747
Natural variantiVAR_0023121127G → S in MFS; mild form. 1 PublicationCorresponds to variant rs137854468dbSNPEnsembl.1
Natural variantiVAR_0107771129C → Y in MFS. 1 PublicationCorresponds to variant rs137854482dbSNPEnsembl.1
Natural variantiVAR_0760511130H → P in MFS. 1 Publication1
Natural variantiVAR_0760521136 – 2871Missing in MFS. 1 PublicationAdd BLAST1736
Natural variantiVAR_0023141137R → P in MFS. 2 PublicationsCorresponds to variant rs137854456dbSNPEnsembl.1
Natural variantiVAR_0760531138C → Y in MFS. 1 Publication1
Natural variantiVAR_0760541140 – 2871Missing in MFS. 1 PublicationAdd BLAST1732
Natural variantiVAR_0238751153C → S in MFS. 1 Publication1
Natural variantiVAR_0023161153C → Y in MFS; severe. 2 PublicationsCorresponds to variant rs140599dbSNPEnsembl.1
Natural variantiVAR_0023171155D → N in MFS and ECTOL1. 2 Publications1
Natural variantiVAR_0760551158E → G in MFS. 1 Publication1
Natural variantiVAR_0023181170R → H in MFS. 3 PublicationsCorresponds to variant rs137854475dbSNPEnsembl.1
Natural variantiVAR_0023191171C → W in MFS. 1 Publication1
Natural variantiVAR_0023201173N → K in MFS. 1 Publication1
Natural variantiVAR_0760561182C → W in MFS. 1 Publication1
Natural variantiVAR_0659911185G → D in MFS. 1 Publication1
Natural variantiVAR_0760571199D → A in MFS. 1 Publication1
Natural variantiVAR_0180021200E → G in MFS. 1 Publication1
Natural variantiVAR_0238761211Missing in MFS. 1 Publication1
Natural variantiVAR_0238771219Y → C in MFS. 1 Publication1
Natural variantiVAR_0760581223C → R in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0023211223C → Y in MFS; also found in a patient with Shprintzen-Goldberg craniosynostosis syndrome. 2 PublicationsCorresponds to variant rs137854469dbSNPEnsembl.1
Natural variantiVAR_0023221242C → Y in MFS. 1 PublicationCorresponds to variant rs137854471dbSNPEnsembl.1
Natural variantiVAR_0760591249C → R in MFS. 1 Publication1
Natural variantiVAR_0023231249C → S in MFS. 1 PublicationCorresponds to variant rs137854458dbSNPEnsembl.1
Natural variantiVAR_0107781261Y → C in MFS. 1 Publication1
Natural variantiVAR_0238781261Y → D in MFS. 1 Publication1
Natural variantiVAR_0183201265C → R in MFS. 1 PublicationCorresponds to variant rs137854474dbSNPEnsembl.1
Natural variantiVAR_0760601265C → Y in MFS. 1 Publication1
Natural variantiVAR_0238791278C → S in MFS. 1 Publication1
Natural variantiVAR_0238801284C → G in MFS. 1 Publication1
Natural variantiVAR_0659921284C → Y in MFS. 1 Publication1
Natural variantiVAR_0760611307C → Y in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0760621320C → R in MFS. 1 Publication1
Natural variantiVAR_0180031325E → Q in MFS. 1 Publication1
Natural variantiVAR_0760631326C → R in MFS; severe neonatal. 1 Publication1
Natural variantiVAR_0238811333C → S in MFS. 1 Publication1
Natural variantiVAR_0180041337A → P in MFS; neonatal. 1 Publication1
Natural variantiVAR_0180051339C → Y in MFS. 1 Publication1
Natural variantiVAR_0760641346F → L in MFS. 1 Publication1
Natural variantiVAR_0659931350C → F in MFS. 1 Publication1
Natural variantiVAR_0180061366E → K in MFS. 2 Publications1
Natural variantiVAR_0180071374C → S in MFS. 1 Publication1
Natural variantiVAR_0023241382N → S in MFS. 1 Publication1
Natural variantiVAR_0180081389C → R in MFS. 1 Publication1
Natural variantiVAR_0180091394 – 1396Missing in MFS. 1 Publication3
Natural variantiVAR_0659941401T → A in MFS. 1 Publication1
Natural variantiVAR_0238821402C → R in MFS. 1 Publication1
Natural variantiVAR_0760651402C → Y in MFS. 1 Publication1
Natural variantiVAR_0023251404D → Y in MFS. 1 Publication1
Natural variantiVAR_0180101424P → A in MFS. 2 Publications1
Natural variantiVAR_0238831424P → S in MFS. 1 Publication1
Natural variantiVAR_0760671427Y → D in MFS. 1 Publication1
Natural variantiVAR_0180111429C → S in MFS. 1 Publication1
Natural variantiVAR_0659951431C → W in MFS. 1 PublicationCorresponds to variant rs112375043dbSNPEnsembl.1
Natural variantiVAR_0659961431C → Y in MFS. 1 Publication1
Natural variantiVAR_0238841475G → E in MFS. 1 Publication1
Natural variantiVAR_0238851475G → S in MFS. 1 Publication1
Natural variantiVAR_0760681485C → R in MFS. 1 Publication1