Property Summary

NCBI Gene PubMed Count 83
PubMed Score 96.25
PubTator Score 114.17

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Bipolar Disorder 266 0.0 2.0
Disease Target Count Z-score Confidence
Vitreoretinal dystrophy 4 3.55 1.8
Syndactyly 56 3.178 1.6
Disease Target Count
Synpolydactyly type 2 1

Expression

Protein-protein Interaction (6)

Gene RIF (38)

PMID Text
25661773 Study identifies a novel fibulin-1D variant, named fibulin-1D', comprising 638 amino acids with molecular weight of 70.5 kDa. Fibulin-1D' lacks a secretion sequence, has a truncated N-terminus domain and binds to the intracellular domain of integrin beta1.
25456503 Extracellular matrix biomarker, fibulin-1 and its association with soluble uPAR in a bi-ethnic South African population
25331251 The purpose of this study was to develop and characterize robust quantitative assays for the emerging cardiovascular biomarker fibulin-1 and its circulating isoforms in human plasma.
25234557 fibulin-1 expression is associated with NMIBC grade and recurrence, it is epigenetically down-regulated and functions as a tumor suppressor gene and angiogenesis inhibitor in bladder cancer.
25014213 Increased levels of fibulin-1 were independently associated with higher levels of suPAR and NT-proBNP especially in patients with lower aortic valve stenosis
24739800 Treatment with low-dose spironolactone reduced plasma fibulin-1 levels in patients with type 2 diabetes and resistant hypertension.
24084572 Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.
23907575 FBLN1 functions as a novel candidate tumor suppressor gene in CM, and its downregulation may be due to promoter hypermethylation.
23866070 Plasma fibulin-1 is independently associated with pulse wave velocity in type 2 diabetics.
23391467 Fibulin-1 is down regulated in renal cell carcinoma through promoter hypermethylation.
23294625 Increased plasma fibulin-1 levels are associated with diabetes and impaired kidney function.
22349089 In single regression analysis, NT-proBNP was significantly associated with fibulin-1 in African men and Caucasian women.
21926180 Fibulin-1 accumulates in the arterial wall and in plasma of patients with type 2 diabetes, and appears to be a factor associated with arterial extracellular matrix changes in type 2 diabetes.
21888404 plasma levels of fibulin-1 could serve as a potential indicator to monitor kidney malfunction or kidney damage
21268132 Promoter hypermethylation of FBLN1 was significantly associated with advanced stage hepatocellular carcinoma, multiple tumors and increased tumor size.
20967215 data collectively suggest fibulin-1C may be worthy of further investigation as a target for airway remodeling in asthma
20716560 Observational study of gene-disease association. (HuGE Navigator)
20451270 Fibulin-1 is down-regulated in atrial tissue from patients with atrial fibrillation, perhaps reflecting the myocardial structural changes that may have taken place during arrhythmia.
20405022 Fibulin-1 protein was expressed in guinea pig sclera and cultured human scleral fibroblasts.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20098615 Observational study of gene-disease association. (HuGE Navigator)
19693531 the pattern of fibulin-1 within human atherosclerotic lesions and the potential for fibulin-1, perhaps derived from the blood and acting in conjunction with fibrinogen, to play a role in the etiology and cardiovascular disease progression
19609566 fibulin-1 and -2 respond differentially to single and repeated damaging noxae, and their expression is differently present in liver cells
19109427 Like tenascin-C, fibulin-1 inhibits fibroblast spreading and cell-mediated contraction of a fibrin-fibronectin matrix.
18985039 FBLN1 was identified as a novel candidate tmour suppressor gene epigenetically downregulated in gastric cancer
18222970 degradation of basement membrane by cathepsin D liberates both fibulin-1 fragments and fibulin-5, which function to inhibit angiogenesis
17062666 Coexpression of fibulin-1 with GROalpha abrogates key aspects of the transformed phenotype, including colonic tumor formation in a murine xenograft model.
16061471 fibulin-1 is a new regulator of ADAMTS-1-mediated proteoglycan proteolysis and may play an important role in proteoglycan turnover in tissues where there is overlapping expression
15774544 fiblin-1 is an important molecule that mediates progesterone action in human endometrial stromal cells differentiation towards implantation
15528301 The preferential induction of the fibulin-1C variant, which is overexpressed in ovarian and breast cancer, might play an important role in estrogen-promoted carcinogenesis.
14691454 FBLN seems to have an immunological and pathobiological role in breast neoplasm surveillance.
14635206 mutations in the splice acceptor site of fibulin-1 exon 19, but no MYH9 mutations,were found in family individuals affected by autosomal-dominant giant platelet syndromes associated with aberrant antisense gene regulation of the fibulin-1 gene.
12912698 The gene responsible for a unique vitreoretinal dystrophy is located on chromosome 22q13.
12644824 findings indicate that elevated expression and altered processing of fibulin-1 is associated with human breast cancer
12200142 binding of HPV E6 protein to fibulin-1
11836357 FBLN1 disrupted by a t(12;22) translocation is associated with a complex type of synpolydactyly.
11829738 structural and functional characterization of promoter
11792823 Fibulin-1 has pronounced inhibitory effects on cell attachment and spreading promoted by fibronectin (FN) and suppresses the motility of a variety of cell types on FN substrates.

AA Sequence

MERAAPSRRVPLPLLLLGGLALLAAGVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCH      1 - 70
SQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVF     71 - 140
QACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSD    141 - 210
GVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQ    211 - 280
NTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEE    281 - 350
GTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLG    351 - 420
SYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTG    421 - 490
GHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENY    491 - 560
RRSAATLQQEKTDTVRCIKSCRPNDVTCVFDPVHTISHTVISLPTFREFTRPEEIIFLRAITPPHPASQA    561 - 630
NIIFDITEGNLRDSFDIIKRYMDGMTVGVVRQVRPIVGPFHAVLKLEMNYVVGGVVSHRNVVNVHIFVSE    631 - 700
YWF                                                                       701 - 703
//

Text Mined References (85)

PMID Year Title
25834989 2015 Fibulin1C peptide induces cell attachment and extracellular matrix deposition in lung fibroblasts.
25661773 2015 A novel intracellular fibulin-1D variant binds to the cytoplasmic domain of integrin beta 1 subunit.
25456503 2015 Extracellular matrix biomarker, fibulin-1 and its association with soluble uPAR in a bi-ethnic South African population: the SAfrEIC study.
25331251 2015 Total and isoform-specific quantitative assessment of circulating fibulin-1 using selected reaction monitoring MS and time-resolved immunofluorometry.
25234557 2014 Fibulin-1 is epigenetically down-regulated and related with bladder cancer recurrence.
25014213 2014 Extracellular matrix biomarker, fibulin-1, is closely related to NT-proBNP and soluble urokinase plasminogen activator receptor in patients with aortic valve stenosis (the SEAS study).
24739800 2015 Low-dose spironolactone reduces plasma fibulin-1 levels in patients with type 2 diabetes and resistant hypertension.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24084572 2014 Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues.
23907575 2014 Abnormal hypermethylation and clinicopathological significance of FBLN1 gene in cutaneous melanoma.
23866070 2013 Plasma levels of the arterial wall protein fibulin-1 are associated with carotid-femoral pulse wave velocity: a cross-sectional study.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23391467 2013 Fibulin-1 is down-regulated through promoter hypermethylation and suppresses renal cell carcinoma progression.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23294625 2013 Plasma concentrations of extracellular matrix protein fibulin-1 are related to cardiovascular risk markers in chronic kidney disease and diabetes.
22365631 2012 Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci.
22349089 2012 NT-proBNP is associated with fibulin-1 in Africans: the SAfrEIC study.
21926180 2011 Fibulin-1 is a marker for arterial extracellular matrix alterations in type 2 diabetes.
21888404 2011 Plasma profiling reveals human fibulin-1 as candidate marker for renal impairment.
21268132 2011 Promoter hypermethylation of fibulin 1 gene is associated with tumor progression in hepatocellular carcinoma.
20967215 2010 Fibulin-1 is increased in asthma--a novel mediator of airway remodeling?
20716560 2010 Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage.
20551380 2010 Proteomics characterization of extracellular space components in the human aorta.
20451270 2011 High-resolution two-dimensional gel electrophoresis analysis of atrial tissue proteome reveals down-regulation of fibulin-1 in atrial fibrillation.
20405022 2010 All-trans retinoic acid regulates the expression of the extracellular matrix protein fibulin-1 in the guinea pig sclera and human scleral fibroblasts.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20098615 2010 Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.
19693531 2009 Fibulin-1 and fibrinogen in human atherosclerotic lesions.
19609566 2009 Expression of ECM proteins fibulin-1 and -2 in acute and chronic liver disease and in cultured rat liver cells.
19139490 2009 A strategy for precise and large scale identification of core fucosylated glycoproteins.
19109427 2009 A shared mechanism of adhesion modulation for tenascin-C and fibulin-1.
18985039 2008 Fibulin 1 is downregulated through promoter hypermethylation in gastric cancer.
18222970 2008 Basement membrane derived fibulin-1 and fibulin-5 function as angiogenesis inhibitors and suppress tumor growth.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17062666 2006 GROalpha is highly expressed in adenocarcinoma of the colon and down-regulates fibulin-1.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
16061471 2005 Fibulin-1 acts as a cofactor for the matrix metalloprotease ADAMTS-1.
15774544 2005 Progesterone induces the fibulin-1 expression in human endometrial stromal cells.
15528301 2005 Transcriptional and posttranscriptional regulation of fibulin-1 by estrogens leads to differential induction of messenger ribonucleic acid variants in ovarian and breast cancer cells.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231748 2004 Functional proteomics mapping of a human signaling pathway.
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14691454 2004 Immunological and pathobiological roles of fibulin-1 in breast cancer.
14635206 2003 MYH9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association with fibulin-1 variant-D inactivation.
12912698 2003 Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy.
12644824 2003 Elevated expression and altered processing of fibulin-1 protein in human breast cancer.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12200142 2002 Interaction of oncogenic papillomavirus E6 proteins with fibulin-1.
12122015 2002 Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly.
11850827 2002 Estrogen induction and overexpression of fibulin-1C mRNA in ovarian cancer cells.
11846885 2002 Latent transforming growth factor beta-binding protein-3 and fibulin-1C interact with the extracellular domain of the heparin-binding EGF-like growth factor precursor.
11836357 2002 The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly.
11829738 2002 Structural and functional characterization of the human and mouse fibulin-1 gene promoters: role of Sp1 and Sp3.
11792823 2001 Fibulin-1 suppression of fibronectin-regulated cell adhesion and motility.
11238726 2001 Fibulin-1 binds the amino-terminal head of beta-amyloid precursor protein and modulates its physiological function.
10591208 1999 The DNA sequence of human chromosome 22.
10544250 1999 Tropoelastin binding to fibulins, nidogen-2 and other extracellular matrix proteins.
10400671 1999 Fibulin-1 is a ligand for the C-type lectin domains of aggrecan and versican.
10318851 1999 Translational control of specific genes during differentiation of HL-60 cells.
10037144 1999 Complete exon-intron organization of the mouse fibulin-1 gene and its comparison with the human fibulin-1 gene.
9927660 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.
9811350 1998 Increased immunostaining of fibulin-1, an estrogen-regulated protein in the stroma of human ovarian epithelial tumors.
9466671 1998 Estradiol and fibulin-1 inhibit motility of human ovarian- and breast-cancer cells induced by fibronectin.
9393974 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.
9299350 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.
9278415 1997 The self-association and fibronectin-binding sites of fibulin-1 map to calcium-binding epidermal growth factor-like domains.
9106159 1997 Human fibulin-1D: molecular cloning, expression and similarity with S1-5 protein, a new member of the fibulin gene family.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8839849 1996 Fibulin-1 mediates platelet adhesion via a bridge of fibrinogen.
8737292 1996 The extracellular matrix proteins fibulin-1 and fibulin-2 in the early human embryo.
8552629 1996 Estrogens increase the expression of fibulin-1, an extracellular matrix protein secreted by human ovarian cancer cells.
8354280 1993 Sequence of extracellular mouse protein BM-90/fibulin and its calcium-dependent binding to other basement-membrane ligands.
8175920 1994 Protein binding and cell adhesion properties of two laminin isoforms (AmB1eB2e, AmB1sB2e) from human placenta.
7842734 1995 Localization of the human gene for fibulin-1 (FBLN1) to chromosome band 22q13.3.
7806231 1994 The fibulin-1 gene (FBLN1) is located on human chromosome 22 and on mouse chromosome 15.
7642629 1995 The interaction of fibulin-1 with fibrinogen. A potential role in hemostasis and thrombosis.
7534784 1995 The association of human fibulin-1 with elastic fibers: an immunohistological, ultrastructural, and RNA study.
7500359 1995 Binding of mouse and human fibulin-2 to extracellular matrix ligands.
2527614 1989 Fibulin, a novel protein that interacts with the fibronectin receptor beta subunit cytoplasmic domain.
2269669 1990 Fibulin is an extracellular matrix and plasma glycoprotein with repeated domain structure.
1400330 1992 Fibulin binds to itself and to the carboxyl-terminal heparin-binding region of fibronectin.