IHC: 1:50- 1:200
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: cell cortex; cell-cell adherens junction; cytoplasm; cytosol; focal adhesion; membrane; nucleus
Molecular Function: actin binding; actin monomer binding; adenyl-nucleotide exchange factor activity; phosphatidylinositol-4,5-bisphosphate binding; protein binding
Biological Process: negative regulation of actin filament bundle formation; negative regulation of actin filament polymerization; negative regulation of stress fiber formation; positive regulation of actin filament bundle formation; positive regulation of actin filament polymerization; positive regulation of ATPase activity; protein stabilization; Wnt receptor signaling pathway, planar cell polarity pathway
Disease: Amyotrophic Lateral Sclerosis 18