External Ids for FBLN1 Gene
Previous GeneCards Identifiers for FBLN1 Gene
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]
GeneCards Summary for FBLN1 Gene
FBLN1 (Fibulin 1) is a Protein Coding gene. Diseases associated with FBLN1 include Synpolydactyly, 3/3'4, Associated With Metacarpal And Metatarsal Synostoses and Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome. Among its related pathways are Elastic fibre formation and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and peptidase activator activity. An important paralog of this gene is FBLN2.
UniProtKB/Swiss-Prot for FBLN1 Gene
Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP.