FBLN1 Gene

HGNC Family	Fibulins (FBLN)
Name	fibulin 1
Description	Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Fibulin‐1 (FBLN1) is a multifunctional extracellular matrix glycoprotein that plays diverse roles in tissue development, homeostasis, and disease. In vitro studies have shown that FBLN1 associates with fibronectin and potently suppresses fibronectin‐dependent cell adhesion, spreading, and motility by modulating key intracellular signaling events, including the down‐regulation of extracellular signal–regulated kinase activation and myosin phosphorylation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, FBLN1 functions as a critical cofactor in the processing of large extracellular proteoglycans. Haploinsufficiency of FBLN1 exacerbates developmental defects such as syndactyly by impairing ADAMTS protease–mediated versican cleavage"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", and its binding to the C‐type lectin domain of aggrecan is essential for proper cartilage matrix assembly."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the context of cancer, FBLN1 exhibits tumor–suppressive properties. In breast carcinomas, altered processing of FBLN1 is associated with extracellular matrix reorganization and correlates with hormone receptor status."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Similarly, promoter hypermethylation–mediated down–regulation of FBLN1 in gastric carcinomas suggests that reduced FBLN1 expression may promote tumor progression by affecting cell survival and inducing apoptosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n FBLN1 also contributes to the structural integrity of elastic matrices in tissues. Specific splice variants, such as FBLN1c, are upregulated in chronic fibrotic settings—in asthma and pulmonary fibrosis—to stabilize collagen deposition and activate transforming growth factor–β signaling, thereby enhancing tissue stiffness and remodeling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " In the vasculature, increased accumulation of FBLN1 correlates with markers of arterial stiffness and has been linked to adverse cardiovascular outcomes in type 2 diabetes patients."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, proteolytic fragments derived from FBLN1, such as neostatin, display antiangiogenic activity by inhibiting endothelial cell proliferation, suggesting that FBLN1 may also help regulate neovascularization in tumor microenvironments."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these studies underscore FBLN1’s integral role in modulating cell–matrix interactions, proteoglycan processing, and angiogenesis, thereby influencing developmental processes, extracellular matrix remodeling, and tumor progression.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "W O Twal, A Czirok, B Hegedus, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibulin-1 suppression of fibronectin-regulated cell adhesion and motility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.114.24.4587"}], "href": "https://doi.org/10.1242/jcs.114.24.4587"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11792823"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11792823"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Daniel R McCulloch, Courtney M Nelson, Laura J Dixon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ADAMTS metalloproteases generate active versican fragments that regulate interdigital web regression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.devcel.2009.09.008"}], "href": "https://doi.org/10.1016/j.devcel.2009.09.008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19922873"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19922873"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Eva-Lena Stattin, Fredrik Wiklund, Karin Lindblom, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2009.12.018"}], "href": "https://doi.org/10.1016/j.ajhg.2009.12.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20137779"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20137779"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Joanna M Day, Anders I Olin, Alan D Murdoch, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alternative splicing in the aggrecan G3 domain influences binding interactions with tenascin-C and other extracellular matrix proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M400242200"}], "href": "https://doi.org/10.1074/jbc.M400242200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14722076"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14722076"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "L M Greene, W O Twal, M J Duffy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Elevated expression and altered processing of fibulin-1 protein in human breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Cancer (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.bjc.6600802"}], "href": "https://doi.org/10.1038/sj.bjc.6600802"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12644824"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12644824"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Y Y Cheng, H Jin, X Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibulin 1 is downregulated through promoter hypermethylation in gastric cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Cancer (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.bjc.6604760"}], "href": "https://doi.org/10.1038/sj.bjc.6604760"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18985039"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18985039"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Gang Liu, Marion A Cooley, Prema M Nair, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Airway remodelling and inflammation in asthma are dependent on the extracellular matrix protein fibulin-1c."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pathol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/path.4979"}], "href": "https://doi.org/10.1002/path.4979"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28862768"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28862768"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Gang Liu, Marion A Cooley, Andrew G Jarnicki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibulin-1c regulates transforming growth factor-β activation in pulmonary tissue fibrosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "JCI Insight (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/jci.insight.124529"}], "href": "https://doi.org/10.1172/jci.insight.124529"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31343988"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31343988"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Claudia Cangemi, Vibe Skov, Michael Kjaer Poulsen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibulin-1 is a marker for arterial extracellular matrix alterations in type 2 diabetes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Chem (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1373/clinchem.2011.162966"}], "href": "https://doi.org/10.1373/clinchem.2011.162966"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21926180"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21926180"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Liang Xie, Kristin Palmsten, Brian MacDonald, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Basement membrane derived fibulin-1 and fibulin-5 function as angiogenesis inhibitors and suppress tumor growth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Biol Med (Maywood) (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3181/0706-RM-167"}], "href": "https://doi.org/10.3181/0706-RM-167"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18222970"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18222970"}]}]}]}
Synonyms	FIBL1, FBLN
Proteins	FBLN1_HUMAN
NCBI Gene ID	2192
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FBLN1 has 10,505 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 121 datasets.

Click the + buttons to view associations for FBLN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

FBLN1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by FBLN1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FBLN1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of FBLN1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of FBLN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of FBLN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FBLN1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of FBLN1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FBLN1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FBLN1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of FBLN1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of FBLN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with FBLN1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with FBLN1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FBLN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FBLN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of FBLN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of FBLN1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FBLN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing FBLN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing FBLN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing FBLN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with FBLN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with FBLN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of FBLN1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FBLN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with FBLN1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with FBLN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with FBLN1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by FBLN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with FBLN1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with FBLN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with FBLN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with FBLN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with FBLN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at FBLN1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FBLN1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of FBLN1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing FBLN1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with FBLN1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with FBLN1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.