Fibulin 1 (FBLN1) Antibody – Mouse Monoclonal

FBLN1: 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. A chromosomal aberration involving FBLN1 is found in a complex type of synpolydactyly referred to as 3/3-prime/4 synpolydactyly associated with metacarpal and metatarsal synostoses. Reciprocal translocation t(12;22)(p11.2;q13.3) with C12orf2. Fibroblasts derived from a patient with synpolydactyly displayed alterations in the level of isoform D splice variant incorporated into the ECM and secreted into the conditioned culture medium. By contrast, the expression of isoform C was not perturbed in the patients fibroblasts. Furthermore, no aberrant polypeptides were detected in extracts of cultured patients fibroblasts. The translocation t(12;22) may result in haploinsufficiency of the isoform D splice variant, which could lead to the observed limb malformation. Elevated expression and altered processing of FBLN1 protein is associated with human breast cancer. Belongs to the fibulin family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Extracellular matrix; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 15|15 E2

Cellular Component: basement membrane; extracellular matrix; extracellular space; fibrinogen complex; proteinaceous extracellular matrix

Molecular Function: calcium ion binding; extracellular matrix structural constituent; fibronectin binding; identical protein binding; protease activator activity; protein binding; protein C-terminus binding; protein complex binding

Biological Process: extracellular matrix organization and biogenesis; negative regulation of cell adhesion; negative regulation of protein amino acid phosphorylation