FBN1

FBN1

Fibrillin 1
PDB rendering based on 1apj.
Available structures PDB 1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2W86
Identifiers
Symbols	FBN1; FBN; MASS; MFS1; OCTD; SGS; SSKS; WMS
External IDs	OMIM: 134797 MGI: 95489 HomoloGene: 30958 GeneCards: FBN1 Gene
Gene Ontology Molecular function • extracellular matrix structural constituent • calcium ion binding • protein binding Cellular component • microfibril • extracellular region • proteinaceous extracellular matrix • basement membrane • extracellular space • extracellular matrix Biological process • skeletal system development • heart development • negative regulation of BMP signaling pathway by extracellular sequestering of BMP • negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2200	14118
Ensembl	ENSG00000166147	ENSMUSG00000027204
UniProt	P35555	Q3TRZ5
RefSeq (mRNA)	NM_000138.4	NM_007993.2
RefSeq (protein)	NP_000129.3	NP_032019.2
Location (UCSC)	Chr 15: 48.7 – 48.94 Mb	Chr 2: 125.13 – 125.33 Mb
PubMed search	[1]	[2]

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene.^[1][2]

This gene encodes a member of the fibrillin family. The encoded protein is a large, extracellular matrix glycoprotein that serve 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]

See also

• Fibrillin

References

1. ^ Biery NJ, Eldadah ZA, Moore CS, Stetten G, Spencer F, Dietz HC (May 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". J Med Genet 40 (1): 34–6. doi:10.1136/jmg.40.1.34. PMC 1735272. PMID 12525539. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1735272.
3. ^ "Entrez Gene: FBN1 fibrillin 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2200.

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". Hum. Mutat. 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 (2000). "The molecular genetics of Marfan syndrome and related microfibrillopathies". J. Med. Genet. 37 (1): 9–25. doi:10.1136/jmg.37.1.9. PMC 1734449. PMID 10633129. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1734449.
• Handford PA (2001). "Fibrillin-1, a calcium binding protein of extracellular matrix". Biochim. Biophys. Acta 1498 (2–3): 84–90. PMID 11108952.
• Robinson PN, Booms P, Katzke S, et al. (2002). "Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies". Hum. Mutat. 20 (3): 153–61. doi:10.1002/humu.10113. PMID 12203987.
• Adès LC, Holman KJ, Brett MS, et al. (2004). "Ectopia lentis phenotypes and the FBN1 gene". Am. J. Med. Genet. A 126 (3): 284–9. doi:10.1002/ajmg.a.20605. PMID 15054843.
• Milewicz DM, Dietz HC, Miller DC (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 (2005). "Molecular genetics of Marfan syndrome". Curr. Opin. Cardiol. 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". Antioxid. Redox Signal. 8 (3–4): 338–46. doi:10.1089/ars.2006.8.338. PMID 16677079.

v · d · ePDB gallery
1apj: NMR STUDY OF THE TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN-LIKE DOMAIN (TB MODULE/8-CYS DOMAIN), NMR, 21 STRUCTURES   1emn: NMR STUDY OF A PAIR OF FIBRILLIN CA2+ BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAINS, MINIMIZED AVERAGE STRUCTURE   1emo: NMR STUDY OF A PAIR OF FIBRILLIN CA2+ BINDING EPIDERMAL GROWTH FACTOR-LIKE DOMAINS, 22 STRUCTURES   1lmj: NMR Study of the Fibrillin-1 cbEGF12-13 Pair of Ca2+ Binding Epidermal Growth Factor-like Domains   1uzj: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, HOLO FORM.   1uzk: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, CA BOUND TO CBEGF23 DOMAIN ONLY   1uzp: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, SM BOUND FORM CBEGF23 DOMAIN ONLY.   1uzq: INTEGRIN BINDING CBEGF22-TB4-CBEGF33 FRAGMENT OF HUMAN FIBRILLIN-1, APO FORM CBEGF23 DOMAIN ONLY.

v · d · eHistology: connective tissue (TH H2.00.03)
Composition	Cells Resident Fibroblast · Fibrocyte · Reticular cell · Tendon cell Adipocyte Melanocyte Wandering cell Mast cell · Macrophage Extracellular matrix (noncellular) Ground substance Tissue fluid Fibers Collagen fibers Reticular fibers: COL3A1 Elastic fibers: Elastin · Fibrillin (FBN1, FBN2, FBN3) · EMILIN1 Elaunin
Classification	Connective tissue proper Loose Reticular · Adipose (Brown, White) Dense Dense irregular connective tissue (Submucosa, Dermis) · Dense regular connective tissue (Ligament, Tendon, Aponeurosis) Embryonic Mucoid · Mesenchymal Specialized Cartilage · Bone
Related	Soft tissue
see also Template:Soft tissue tumors and sarcomas M: INT, SF, LCT anat/phys/devp noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon proc, drug (D2/3/4/5/8/11) M: MUS, DF+DRCT anat (h/n, u, t/d, a/p, l)/phys/devp/hist noco(m, s, c)/cong(d)/tumr, sysi/epon, injr proc, drug (M1A/3)

Categories:

• Human proteins
• Chromosome 15 gene stubs

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