FBLN1

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

FBLN1
Identifiers
Aliases	FBLN1, FBLN, FIBL1, fibulin 1
External IDs	OMIM: 135820; MGI: 95487; HomoloGene: 21295; GeneCards: FBLN1; OMA:FBLN1 - orthologs
Gene location (Human) Chr. Chromosome 22 (human) Band 22q13.31 Start 45,502,238 bp End 45,601,135 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E2 Start 85,090,150 bp End 85,170,736 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in canal of the cervix gallbladder vena cava pericardium gastric mucosa ectocervix vagina left uterine tube right auricle tendon of biceps brachii Top expressed in aortic valve otic vesicle ascending aorta otic placode ciliary body external carotid artery saccule mandibular prominence internal carotid artery maxillary prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function fibronectin binding calcium ion binding extracellular matrix structural constituent fibrinogen binding integrin binding protein C-terminus binding protein binding identical protein binding peptidase activator activity protein-containing complex binding Cellular component elastic fiber extracellular matrix fibrinogen complex basement membrane extracellular exosome extracellular space extracellular region collagen-containing extracellular matrix Biological process negative regulation of protein phosphorylation negative regulation of cell adhesion negative regulation of stem cell proliferation positive regulation of fibroblast proliferation positive regulation of substrate-dependent cell migration, cell attachment to substrate negative regulation of cell motility negative regulation of transformation of host cell by virus positive regulation of peptidase activity positive regulation of gene expression negative regulation of ERK1 and ERK2 cascade integrin-mediated signaling pathway blood coagulation, fibrin clot formation negative regulation of substrate adhesion-dependent cell spreading viral process embryo implantation extracellular matrix organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2192 14114 Ensembl ENSG00000077942 ENSMUSG00000006369 UniProt P23142 Q08879 RefSeq (mRNA) NM_006487 NM_001996 NM_006485 NM_006486 NM_010180 NM_001347088 RefSeq (protein) NP_001987 NP_006476 NP_006477 NP_006478 NP_001334017 NP_034310 Location (UCSC) Chr 22: 45.5 – 45.6 Mb Chr 15: 85.09 – 85.17 Mb PubMed search
Wikidata
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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:

• NOV/CCN3,
• amyloid precursor protein,
• entactin,
• fibrinogen, and
• fibronectin.

See also

• Synpolydactyly

Further reading

• Balbona K, Tran H, Godyna S, Ingham KC, Strickland DK, Argraves WS (Oct 1992). "Fibulin binds to itself and to the carboxyl-terminal heparin-binding region of fibronectin". The Journal of Biological Chemistry. 267 (28): 20120–5. doi:10.1016/S0021-9258(19)88674-X. PMID 1400330.
• Argraves WS, Tran H, Burgess WH, Dickerson K (Dec 1990). "Fibulin is an extracellular matrix and plasma glycoprotein with repeated domain structure". The Journal of Cell Biology. 111 (6 Pt 2): 3155–64. doi:10.1083/jcb.111.6.3155. PMC 2116371. PMID 2269669.
• Argraves WS, Dickerson K, Burgess WH, Ruoslahti E (Aug 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. S2CID 24834825.
• Sasaki T, Göhring W, Pan TC, Chu ML, Timpl R (Dec 1995). "Binding of mouse and human fibulin-2 to extracellular matrix ligands". Journal of Molecular Biology. 254 (5): 892–9. doi:10.1006/jmbi.1995.0664. PMID 7500359.
• Roark EF, Keene DR, Haudenschild CC, Godyna S, Little CD, Argraves WS (Apr 1995). "The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study". The Journal of Histochemistry and Cytochemistry. 43 (4): 401–11. doi:10.1177/43.4.7534784. PMID 7534784.
• Tran H, Tanaka A, Litvinovich SV, Medved LV, Haudenschild CC, Argraves WS (Aug 1995). "The interaction of fibulin-1 with fibrinogen. A potential role in hemostasis and thrombosis". The Journal of Biological Chemistry. 270 (33): 19458–64. doi:10.1074/jbc.270.33.19458. PMID 7642629.
• Mattei MG, Pan TC, Zhang RZ, Timpl R, Chu ML (Jul 1994). "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". Cytogenetics and Cell Genetics. 68 (3–4): 192–3. doi:10.1159/000133911. PMID 7842734.
• Brown JC, Wiedemann H, Timpl R (Jan 1994). "Protein binding and cell adhesion properties of two laminin isoforms (AmB1eB2e, AmB1sB2e) from human placenta". Journal of Cell Science. 107 (1): 329–38. doi:10.1242/jcs.107.1.329. PMID 8175920.
• Pan TC, Kluge M, Zhang RZ, Mayer U, Timpl R, Chu ML (Aug 1993). "Sequence of extracellular mouse protein BM-90/fibulin and its calcium-dependent binding to other basement-membrane ligands". European Journal of Biochemistry. 215 (3): 733–40. doi:10.1111/j.1432-1033.1993.tb18086.x. PMID 8354280.
• Clinton GM, Rougeot C, Derancourt J, Roger P, Defrenne A, Godyna S, Argraves WS, Rochefort H (Jan 1996). "Estrogens increase the expression of fibulin-1, an extracellular matrix protein secreted by human ovarian cancer cells". Proceedings of the National Academy of Sciences of the United States of America. 93 (1): 316–20. Bibcode:1996PNAS...93..316C. doi:10.1073/pnas.93.1.316. PMC 40229. PMID 8552629.
• Miosge N, Götz W, Sasaki T, Chu ML, Timpl R, Herken R (Feb 1996). "The extracellular matrix proteins fibulin-1 and fibulin-2 in the early human embryo". The Histochemical Journal. 28 (2): 109–16. doi:10.1007/BF02331415. PMID 8737292. S2CID 25996538.
• Godyna S, Diaz-Ricart M, Argraves WS (Oct 1996). "Fibulin-1 mediates platelet adhesion via a bridge of fibrinogen". Blood. 88 (7): 2569–77. doi:10.1182/blood.V88.7.2569.bloodjournal8872569. PMID 8839849.
• Tran H, Mattei M, Godyna S, Argraves WS (Mar 1997). "Human fibulin-1D: molecular cloning, expression and similarity with S1-5 protein, a new member of the fibulin gene family". Matrix Biology. 15 (7): 479–93. doi:10.1016/S0945-053X(97)90021-4. PMID 9106159.
• Tran H, VanDusen WJ, Argraves WS (Sep 1997). "The self-association and fibronectin-binding sites of fibulin-1 map to calcium-binding epidermal growth factor-like domains". The Journal of Biological Chemistry. 272 (36): 22600–6. doi:10.1074/jbc.272.36.22600. PMID 9278415.
• Adam S, Göhring W, Wiedemann H, Chu ML, Timpl R, Kostka G (Sep 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". Journal of Molecular Biology. 272 (2): 226–36. doi:10.1006/jmbi.1997.1244. PMID 9299350.
• Qing J, Maher VM, Tran H, Argraves WS, Dunstan RW, McCormick JJ (Oct 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, Godyna S, Argraves WS, Rochefort H (Feb 1998). "Estradiol and fibulin-1 inhibit motility of human ovarian- and breast-cancer cells induced by fibronectin". International Journal of 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, Baldet P, Rochefort H (Nov 1998). "Increased immunostaining of fibulin-1, an estrogen-regulated protein in the stroma of human ovarian epithelial tumors". The American Journal of Pathology. 153 (5): 1579–88. doi:10.1016/S0002-9440(10)65746-X. PMC 1853396. PMID 9811350.
• Perbal B, Martinerie C, Sainson R, Werner M, He B, Roizman B (Feb 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". Proceedings of the National Academy of Sciences of the United States of America. 96 (3): 869–74. Bibcode:1999PNAS...96..869P. doi:10.1073/pnas.96.3.869. PMC 15317. PMID 9927660.