FBLN1

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 45,502,238bp End 45,601,135bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E2 Start 85,090,150bp End 85,170,736bp
RNA expressionpattern 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 PubMedsearch
Wikidata
View/Edit Human View/Edit Mouse

FBLN1is the gene encodingfibulin-1,an extracellular matrix and plasma protein.

Function

Fibulin-1 is a secretedglycoproteinthat is found in association withextracellular matrixstructures includingfibronectin-containing fibers,elastin-containing fibers andbasement membranes.Fibulin-1 binds to a number of extracellular matrix constituents includingfibronectin,nidogen-1,and theproteoglycan,versican.Fibulin-1 is also a blood protein capable of binding tofibrinogen.

Structure

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

The human fibulin-1 gene, FBLN1, encodes foursplice variantsdesignated fibulin-1A, B, C and D, which differ in theircarboxy terminalregions. 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 tointeractwith:

• 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.PMID1400330.
• 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.PMC2116371.PMID2269669.
• 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.PMID2527614.S2CID24834825.
• 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.PMID7500359.
• 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.PMID7534784.
• 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.PMID7642629.
• 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.PMID7806231.
• 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.PMID7842734.
• 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.PMID8175920.
• 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.PMID8354280.
• 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.PMC40229.PMID8552629.
• 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.PMID8737292.S2CID25996538.
• 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.PMID8839849.
• 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.PMID9106159.
• 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.PMID9278415.
• 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.PMID9299350.
• 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.PMID9393974.
• 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.PMID9466671.
• 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.PMC1853396.PMID9811350.
• 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.PMC15317.PMID9927660.