This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined.
Fibulin-5, also known as EVEC and DANCE, is an extracellular matrix glycoprotein, secreted by various cell types such as vascular smooth muscle cells, fibroblasts and endothelial cells. Structurally, Fibulin-5 contains an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Fibulin-5 mutations have been described in patients with age-related macular degeneration, as well as being involved in Charcot-Marie-Tooth neuropathies.
Ficolins are humoral molecules of the innate immune systems which recognize carbohydrate molecules on pathogens, apoptotic and necrotic cells. The Ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. Ficolins are humoral molecules of the innate immune systems which recognize carbohydrate molecules on pathogens, apoptotic and necrotic cells. Three Ficolins have been identified in humans: L-Ficolin, H-Ficolin and M-Ficolin (also referred to as Ficolin-2, -3 and -1, respectively). They are soluble oligomeric defence proteins with lectin-like activity and they are structurally similar to the human collectins, mannan-binding lectin (MBL) and surfactant protein A and D. Dysfunction or abnormal expressions of Ficolins may involved in the pathogenesis of human diseases including infectious and inflammatory diseases, autoimmune disease and clinical syndrome of preeclampsia. They are soluble oligomeric defence proteins with lectin-like activity and they are structurally similar to the human collectins, mannan-binding lectin (MBL) and surfactant protein A and D. Upon recognition of the infectious agent, the Ficolins act through two distinct routes: initiate the lectin pathway of complement activation through attached serine proteases (MASPs), and a primitive opsonophagocytosis thus limiting the infection and concurrently orchestrating the subsequent adaptive clonal immune response. Ficolin-1 (FCN1) is predominantly expressed in the peripheral blood leukocytes.
FLNA(filamin A) Homo sapiens The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.
FKBP52 (FK506 binding protein 4) is a member of the immunophilin protein family that comprises intracellular protein effectors of immunosuppressive drugs,and it is known as a steroid receptor-associated protein. As a novel regulator of microtubule dynamics,FKBP52 is associated with the motor protein dynein and with the cytoskeleton during mitosis. FKBP52 is highly expressed in CNS regions susceptible to Alzheimer's,and plays a role in modulating toxicity of Abeta peptides. The protein can associate with the Tau function,and may help to decipher and modulate the events involved in Tau-induced neurodegeneration. In addition,FKBP52 is likely to play a role in growth and development of the male genitalia.
FLI1 (Fli-1 Proto-Oncogene, ETS Transcription Factor) is a Protein Coding gene. Diseases associated with FLI1 include Bleeding Disorder, Platelet-Type, 21 and Isolated Delta-Storage Pool Disease. Among its related pathways are Hematopoietic Stem Cell Differentiation and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is ERG.
This gene encodes an protein that localizes to the caveolae, which are small domains on the inner cell membranes. This protein plays a role in vesicle trafficking and cell morphology. Alternative splicing results in multiple transcript variants.
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