Profilin 1 (PFN1) Antibody – Rabbit Polyclonal

This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]

profilin 1: a ubiquitous actin monomer-binding protein belonging to the profilin family. At high concentrations, profilin 1 prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Deletion of this gene is associated with Miller-Dieker syndrome.

Protein type: Actin-binding; Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 17p13.2

Cellular Component: blood microparticle; cell cortex; cytoplasm; cytoskeleton; cytosol; extracellular exosome; focal adhesion; membrane; nucleus

Molecular Function: actin binding; actin monomer binding; adenyl-nucleotide exchange factor activity; cadherin binding; phosphatidylinositol-4,5-bisphosphate binding; proline-rich region binding; protein binding; Rho GTPase binding; RNA binding

Biological Process: actin cytoskeleton organization; negative regulation of actin filament bundle formation; negative regulation of actin filament polymerization; negative regulation of stress fiber formation; neural tube closure; positive regulation of actin filament bundle assembly; positive regulation of actin filament polymerization; positive regulation of ATPase activity; positive regulation of epithelial cell migration; positive regulation of ruffle assembly; protein stabilization; regulation of transcription from RNA polymerase II promoter; Wnt receptor signaling pathway, planar cell polarity pathway

Disease: Amyotrophic Lateral Sclerosis 18