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Fibrillin-1

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves as a structural component of 10–12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body.…

Clinical significance, Gene & Structure

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Aliases
FBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, MFLS, fibrillin 1
Available structures
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2M74, 2W86
Band
15q21.1 · 2 F1|2 61.38 cM
Bgee
synovial joint · skin of hip · decidua · stromal cell of endometrium · vulva
BioGPS
More reference expression data
Chr.
Chromosome 15 (human) · Chromosome 2 (mouse)

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Overview

Gene

Structure

Clinical significance

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Fibrillin-1

Nodes35
Edges34
Triples183
Avg. degree1.94
Density0.057143
Components1

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Fibrillin-1

Top relations

Gene ontology · 42
Fibrillin-1 → activation of protein kinase A activity, basement membrane, calcium ion binding, camera-type eye development, cell adhesion mediated by integrin, cellular response to insulin-like growth factor stimulus, cellular response to transforming growth factor beta stimulus, collagen-containing extracellular matrix, development of the heart, embryonic eye morphogenesis, endoplasmic reticulum lumen, extracellular exosome, extracellular matrix, extracellular matrix constituent conferring elasticity, extracellular matrix disassembly, extracellular matrix organization, extracellular matrix structural constituent, extracellular region, extracellular space, glucose homeostasis
related to Role of TGF-β · 23
Fibrillin-1 → Antagonism, Aortic, Clinical, EC, ECM, In, LAP, LLC, LTBP, LTBP1, MDS, MFS, Mutations, N-terminal, NAb, PAI-1, SLC, Smad2, TGF-β, The LLC
Bgee · 20
Fibrillin-1 → aortic valve, ascending aorta, ciliary body, decidua, dermis, efferent ductule, external carotid artery, gastrula, internal carotid artery, parietal pleura, pericardium, periodontal fiber, saphenous vein, semi-lunar valve, skin of hip, stromal cell of endometrium, synovial joint, umbilical cord, vena cava, vulva
RNA expression pattern · 20
Fibrillin-1 → aortic valve, ascending aorta, ciliary body, decidua, dermis, efferent ductule, external carotid artery, gastrula, internal carotid artery, parietal pleura, pericardium, periodontal fiber, saphenous vein, semi-lunar valve, skin of hip, stromal cell of endometrium, synovial joint, umbilical cord, vena cava, vulva
related to Fetal cardiovascular development · 10
Fibrillin-1 → FBN-1, FBN-2, It, Marfan, The, The FBN-1, These, This, When, While
related to Mutations · 7
Fibrillin-1 → EGF, Elastogenesis, FBN1, MFS, Polymerised, These, This
related to External links · 6
Fibrillin-1 → GeneReviews/NCBI/NIH/UW, Marfan SyndromeOverview, P35555, PDB, PDBe-KB, UniProt
is a · 3
Fibrillin-1 → 350-kDa, large cysteine rich-glycoprotein approximately 350 kDa mainly composed of tandemly repeating domains of epidermal growth factor, protein that in humans is encoded by the FBN1 gene
related to Structure · 3
Fibrillin-1 → EGF-like, TGF-beta, The
Band · 2
Fibrillin-1 → 15q21.1, 2 F1|2 61.38 cM

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Important terminology

mfs tgf-β gene mutations elastic fbn1 protein aortic microfibrils development chromosome 15 structural symptoms bp marfan syndrome human skin chr

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
Fibrillin-1AliasesFBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, MFLS, fibrillin 11.00infobox
Fibrillin-1Available structuresAvailable structuresPDBOrtholog search: PDBe RCSB List of PDB id codes1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2M74, 2W861.00infobox
Fibrillin-1Band15q21.11.00infobox
Fibrillin-1Band2 F1|2 61.38 cM1.00infobox
Fibrillin-1Bgeesynovial joint1.00infobox
Fibrillin-1Bgeeskin of hip1.00infobox
Fibrillin-1Bgeedecidua1.00infobox
Fibrillin-1Bgeestromal cell of endometrium1.00infobox
Fibrillin-1Bgeevulva1.00infobox
Fibrillin-1Bgeepericardium1.00infobox
Fibrillin-1Bgeeperiodontal fiber1.00infobox
Fibrillin-1Bgeevena cava1.00infobox
Fibrillin-1Bgeeparietal pleura1.00infobox
Fibrillin-1Bgeesaphenous vein1.00infobox
Fibrillin-1Bgeeexternal carotid artery1.00infobox
Fibrillin-1Bgeeascending aorta1.00infobox
Fibrillin-1Bgeeumbilical cord1.00infobox
Fibrillin-1Bgeesemi-lunar valve1.00infobox
Fibrillin-1Bgeeaortic valve1.00infobox
Fibrillin-1Bgeegastrula1.00infobox
Fibrillin-1Bgeeinternal carotid artery1.00infobox
Fibrillin-1Bgeeciliary body1.00infobox
Fibrillin-1Bgeedermis1.00infobox
Fibrillin-1Bgeeefferent ductule1.00infobox
Fibrillin-1BioGPSMore reference expression data1.00infobox
Fibrillin-1Chr.Chromosome 15 (human)1.00infobox
Fibrillin-1Chr.Chromosome 2 (mouse)1.00infobox
Fibrillin-1DatabasesNCBI: entry; OMA: entry1.00infobox
Fibrillin-1End48,645,721 bp1.00infobox
Fibrillin-1End125,349,913 bp1.00infobox

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