Contents

FBLN1

Protein-coding gene in the species Homo sapiens

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)[1] Band 22q13.31 Start 45,502,238 bp[1] End 45,601,135 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 E2 Start 85,090,150 bp[2] End 85,170,736 bp[2]
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 [3] [4]
Wikidata
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FBLN1 is the gene encoding fibulin-1, an extracellular matrix and plasma protein.^[5][6][7]

Function[edit]

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,^[7] nidogen-1, and the proteoglycan, versican.^[7][8] Fibulin-1 is also a blood protein capable of binding to fibrinogen.^[9]

Structure[edit]

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.^[6]

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.^[5]

Interactions[edit]

FBLN1 has been shown to interact with:

See also[edit]

• Synpolydactyly

References[edit]

Further reading[edit]