Fibrillin-1

FBN1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2M74, 2W86
Identifiers
Aliases	FBN1, ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFS1, OCTD, SGS, SSKS, WMS, WMS2, MFLS, fibrillin 1
External IDs	OMIM: 134797 MGI: 95489 HomoloGene: 30958 GeneCards: FBN1
Gene location (Human)
Chr.	Chromosome 15 (human)
End	48,645,721 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	125,349,913 bp
RNA expression pattern
	Top expressed in
	synovial joint; ; stromal cell of endometrium; ; vulva; ; pericardium; ; periodontal fiber; ; vena cava; ; parietal pleura; ; saphenous vein; ; urethra; ; visceral pleura;
	Top expressed in
	external carotid artery; ; ascending aorta; ; belly cord; ; semi-lunar valve; ; aortic valve; ; internal carotid artery; ; ciliary body; ; dermis; ; vas deferens; ; ankle;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; extracellular matrix constituent conferring elasticity; protein-containing complex binding; extracellular matrix structural constituent; integrin binding; protein binding; hormone activity; heparin binding; identical protein binding;
Cellular component	extracellular matrix; basement membrane; extracellular exosome; intracellular anatomical structure; extracellular region; microfibril; extracellular space; endoplasmic reticulum lumen; collagen-containing extracellular matrix;
Biological process	cellular response to transforming growth factor beta stimulus; skeletal system development; kidney development; embryonic eye morphogenesis; post-embryonic eye morphogenesis; cellular response to insulin-like growth factor stimulus; extracellular matrix disassembly; extracellular matrix organization; heart development; camera-type eye development; metanephros development; regulation of cellular response to growth factor stimulus; protein kinase A signaling; activation of protein kinase A activity; glucose metabolic process; cell adhesion mediated by integrin; glucose homeostasis; sequestering of BMP in extracellular matrix; sequestering of TGFbeta in extracellular matrix; negative regulation of osteoclast differentiation; negative regulation of osteoclast development; post-translational protein modification; regulation of signaling receptor activity; signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	2200
	14118
	ENSG00000166147
	ENSMUSG00000027204
	P35555
	Q61554
	NM_000138
	NM_007993
	NP_000129
	NP_032019
	Wikidata
View/Edit Human	View/Edit Mouse

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. Mutations altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome.

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