FBN1

Fibrillin 1
PDB rendering based on 1apj.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1APJ​, 1EMN​, 1EMO​, 1LMJ​, 1UZJ​, 1UZK​, 1UZP​, 1UZQ​, 2M74​, 2W86​
Identifiers
Symbols	FBN1 ; ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1; OCTD; SGS; SSKS; WMS; WMS2
External IDs	OMIM: 134797 MGI: 95489 HomoloGene: 30958 GeneCards: FBN1 Gene
Gene ontology Molecular function • integrin binding • extracellular matrix structural constituent • calcium ion binding • protein binding • extracellular matrix constituent conferring elasticity • protein complex binding Cellular component • microfibril • extracellular region • proteinaceous extracellular matrix • basement membrane • extracellular space • extracellular matrix • extracellular exosome Biological process • skeletal system development • metanephros development • heart development • anatomical structure morphogenesis • extracellular matrix disassembly • extracellular matrix organization • sequestering of BMP in extracellular matrix • sequestering of TGFbeta in extracellular matrix • camera-type eye development • embryonic eye morphogenesis • post-embryonic eye morphogenesis • cellular response to transforming growth factor beta stimulus • regulation of cellular response to growth factor stimulus • cellular response to insulin-like growth factor stimulus Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2200	14118
Ensembl	ENSG00000166147	ENSMUSG00000027204
UniProt	P35555	A2AQ53
RefSeq (mRNA)	NM_000138	NM_007993
RefSeq (protein)	NP_000129	NP_032019
Location (UCSC)	Chr 15: 48.41 – 48.65 Mb	Chr 2: 125.3 – 125.51 Mb
PubMed search

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15.^[1][2]

This gene encodes a member of the fibrillin family. The encoded protein 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 in this gene are associated with Marfan syndrome, isolated ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis syndrome.^[3]

Clinical significance

Mutations in FBN1 and FBN2 are associated with adolescent idiopathic scoliosis .^[4]

See also

• Fibrillin

References

1. Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (Feb 1999). "Revised genomic organization of FBN1 and significance for regulated gene expression". Genomics 56 (1): 70–7. doi:10.1006/geno.1998.5697. PMID 10036187.
2. Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V (Jan 2003). "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome". Journal of Medical Genetics 40 (1): 34–6. doi:10.1136/jmg.40.1.34. PMC 1735272. PMID 12525539.
3. "Entrez Gene: FBN1 fibrillin 1".
4. Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang NL, Lam TP, Ng BK, Cheng JC, Dobbs MB, Gurnett CA (Oct 2014). "Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis". Human Molecular Genetics 23 (19): 5271–82. doi:10.1093/hmg/ddu224. PMID 24833718.

External links

• GeneReviews/NCBI/NIH/UW entry on Marfan Syndrome

Further reading

• Hayward C, Brock DJ (1998). "Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies". Human Mutation 10 (6): 415–23. doi:10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C. PMID 9401003.
• Robinson PN, Godfrey M (Jan 2000). "The molecular genetics of Marfan syndrome and related microfibrillopathies". Journal of Medical Genetics 37 (1): 9–25. doi:10.1136/jmg.37.1.9. PMC 1734449. PMID 10633129.
• Handford PA (Dec 2000). "Fibrillin-1, a calcium binding protein of extracellular matrix". Biochimica et Biophysica Acta 1498 (2-3): 84–90. doi:10.1016/s0167-4889(00)00085-9. PMID 11108952.
• Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T (Sep 2002). "Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies". Human Mutation 20 (3): 153–61. doi:10.1002/humu.10113. PMID 12203987.
• Adès LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B (Apr 2004). "Ectopia lentis phenotypes and the FBN1 gene". American Journal of Medical Genetics. Part A 126A (3): 284–9. doi:10.1002/ajmg.a.20605. PMID 15054843.
• Milewicz DM, Dietz HC, Miller DC (Mar 2005). "Treatment of aortic disease in patients with Marfan syndrome". Circulation 111 (11): e150–7. doi:10.1161/01.CIR.0000155243.70456.F4. PMID 15781745.
• Boileau C, Jondeau G, Mizuguchi T, Matsumoto N (May 2005). "Molecular genetics of Marfan syndrome". Current Opinion in Cardiology 20 (3): 194–200. doi:10.1097/01.hco.0000162398.21972.cd. PMID 15861007.
• Whiteman P, Hutchinson S, Handford PA (2006). "Fibrillin-1 misfolding and disease". Antioxidants & Redox Signaling 8 (3-4): 338–46. doi:10.1089/ars.2006.8.338. PMID 16677079.