FBLN1

Fibulin 1
Identifiers
Symbols	FBLN1; FBLN; FIBL1
External IDs	OMIM: 135820 MGI: 95487 HomoloGene: 21295 GeneCards: FBLN1 Gene
Gene Ontology Molecular function • extracellular matrix structural constituent • calcium ion binding • protein binding • peptidase activator activity Cellular component • extracellular region • proteinaceous extracellular matrix • basement membrane • extracellular space • soluble fraction • extracellular matrix Biological process • extracellular matrix organization • interspecies interaction between organisms Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2192	14114
Ensembl	ENSG00000077942	ENSMUSG00000006369
UniProt	P23142	Q3TW70
RefSeq (mRNA)	NM_001996.3	NM_010180.2
RefSeq (protein)	NP_001987.2	NP_034310.2
Location (UCSC)	Chr 22: 45.9 – 46 Mb	Chr 15: 85.04 – 85.12 Mb
PubMed search	[1]	[2]

FBLN1 is the gene encoding fibulin-1, an extracellular matrix and plasma protein.

Function

Fibulin-1 is a secreted glycoprotein that is found in association with extracellular matrix structures including fibronectin-containing fibers, elastin-containing fibers and basement membranes. Fibulin-1 binds to a number of extracellular matrix constituents including fibronectin, nidogen-1, and the proteoglycan, versican. Fibulin-1 is also a blood protein capable of binding to fibrinogen.

Structure

Fibulin-1 has modular domain structure and includes a series of nine epidermal growth factor-like modules followed by a fibulin-type module, a module found in all members of the fibulin gene family.

The human fibulin-1 gene, FBLN1, encodes four splice variants designated fibulin-1A, B, C and D, which differ in their carboxy terminal regions. In mouse, chicken and the nematode, C. elegans, only two fibulin-1 variants are produced, fibulin-1C and fibulin-1D.

Interactions

FBLN1 has been shown to interact with entactin, NOV/CCN3, amyloid precursor protein, fibrinogen, and fibronectin.

See also

• Synpolydactyly

Further reading

• Balbona K, Tran H, Godyna S, et al. (1992). "Fibulin binds to itself and to the carboxyl-terminal heparin-binding region of fibronectin.". J. Biol. Chem. 267 (28): 20120–5. PMID 1400330. 
• Argraves WS, Tran H, Burgess WH, Dickerson K (1991). "Fibulin is an extracellular matrix and plasma glycoprotein with repeated domain structure.". J. Cell Biol. 111 (6 Pt 2): 3155–64. doi:10.1083/jcb.111.6.3155. PMC 2116371. PMID 2269669. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2116371. 
• Argraves WS, Dickerson K, Burgess WH, Ruoslahti E (1989). "Fibulin, a novel protein that interacts with the fibronectin receptor beta subunit cytoplasmic domain.". Cell 58 (4): 623–9. doi:10.1016/0092-8674(89)90097-4. PMID 2527614. 
• Sasaki T, Göhring W, Pan TC, et al. (1996). "Binding of mouse and human fibulin-2 to extracellular matrix ligands.". J. Mol. Biol. 254 (5): 892–9. doi:10.1006/jmbi.1995.0664. PMID 7500359. 
• Roark EF, Keene DR, Haudenschild CC, et al. (1995). "The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study.". J. Histochem. Cytochem. 43 (4): 401–11. PMID 7534784. 
• Tran H, Tanaka A, Litvinovich SV, et al. (1995). "The interaction of fibulin-1 with fibrinogen. A potential role in hemostasis and thrombosis.". J. Biol. Chem. 270 (33): 19458–64. doi:10.1074/jbc.270.33.19458. PMID 7642629. 
• Mattei MG, Pan TC, Zhang RZ, et al. (1995). "The fibulin-1 gene (FBLN1) is located on human chromosome 22 and on mouse chromosome 15.". Genomics 22 (2): 437–8. doi:10.1006/geno.1994.1406. PMID 7806231. 
• Korenberg JR, Chen XN, Tran H, Argraves WS (1995). "Localization of the human gene for fibulin-1 (FBLN1) to chromosome band 22q13.3.". Cytogenet. Cell Genet. 68 (3-4): 192–3. doi:10.1159/000133911. PMID 7842734. 
• Brown JC, Wiedemann H, Timpl R (1994). "Protein binding and cell adhesion properties of two laminin isoforms (AmB1eB2e, AmB1sB2e) from human placenta.". J. Cell. Sci. 107 (1): 329–38. PMID 8175920. 
• Pan TC, Kluge M, Zhang RZ, et al. (1993). "Sequence of extracellular mouse protein BM-90/fibulin and its calcium-dependent binding to other basement-membrane ligands.". Eur. J. Biochem. 215 (3): 733–40. doi:10.1111/j.1432-1033.1993.tb18086.x. PMID 8354280. 
• Clinton GM, Rougeot C, Derancourt J, et al. (1996). "Estrogens increase the expression of fibulin-1, an extracellular matrix protein secreted by human ovarian cancer cells.". Proc. Natl. Acad. Sci. U.S.A. 93 (1): 316–20. doi:10.1073/pnas.93.1.316. PMC 40229. PMID 8552629. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=40229. 
• Miosge N, Götz W, Sasaki T, et al. (1996). "The extracellular matrix proteins fibulin-1 and fibulin-2 in the early human embryo.". Histochem. J. 28 (2): 109–16. doi:10.1007/BF02331415. PMID 8737292. 
• Godyna S, Diaz-Ricart M, Argraves WS (1996). "Fibulin-1 mediates platelet adhesion via a bridge of fibrinogen.". Blood 88 (7): 2569–77. PMID 8839849. 
• Tran H, Mattei M, Godyna S, Argraves WS (1997). "Human fibulin-1D: molecular cloning, expression and similarity with S1-5 protein, a new member of the fibulin gene family.". Matrix Biol. 15 (7): 479–93. doi:10.1016/S0945-053X(97)90021-4. PMID 9106159. 
• Tran H, VanDusen WJ, Argraves WS (1997). "The self-association and fibronectin-binding sites of fibulin-1 map to calcium-binding epidermal growth factor-like domains.". J. Biol. Chem. 272 (36): 22600–6. doi:10.1074/jbc.272.36.22600. PMID 9278415. 
• Adam S, Göhring W, Wiedemann H, et al. (1997). "Binding of fibulin-1 to nidogen depends on its C-terminal globular domain and a specific array of calcium-binding epidermal growth factor-like (EG) modules.". J. Mol. Biol. 272 (2): 226–36. doi:10.1006/jmbi.1997.1244. PMID 9299350. 
• Qing J, Maher VM, Tran H, et al. (1997). "Suppression of anchorage-independent growth and matrigel invasion and delayed tumor formation by elevated expression of fibulin-1D in human fibrosarcoma-derived cell lines.". Oncogene 15 (18): 2159–68. doi:10.1038/sj.onc.1201385. PMID 9393974. 
• Hayashido Y, Lucas A, Rougeot C, et al. (1998). "Estradiol and fibulin-1 inhibit motility of human ovarian- and breast-cancer cells induced by fibronectin.". Int. J. Cancer 75 (4): 654–8. doi:10.1002/(SICI)1097-0215(19980209)75:4<654::AID-IJC26>3.0.CO;2-7. PMID 9466671. 
• Roger P, Pujol P, Lucas A, et al. (1998). "Increased immunostaining of fibulin-1, an estrogen-regulated protein in the stroma of human ovarian epithelial tumors.". Am. J. Pathol. 153 (5): 1579–88. doi:10.1016/S0002-9440(10)65746-X. PMC 1853396. PMID 9811350. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1853396. 
• Perbal B, Martinerie C, Sainson R, et al. (1999). "The C-terminal domain of the regulatory protein NOVH is sufficient to promote interaction with fibulin 1C: a clue for a role of NOVH in cell-adhesion signaling.". Proc. Natl. Acad. Sci. U.S.A. 96 (3): 869–74. doi:10.1073/pnas.96.3.869. PMC 15317. PMID 9927660. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=15317.