Summary
Performance
Immunogen
Application
Background
phosphatidylinositol-4-phosphate 5-kinase type 1 gamma(PIP5K1C) Homo sapiens This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010],catalytic activity:ATP + 1-phosphatidyl-1D-myo-inositol 4-phosphate = ADP + 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate.,disease:Defects in PIP5K1C are the cause of lethal congenital contractural syndrome type 3 (LCCS3) [MIM:611369]; also known as multiple contractural syndrome Israeli Bedouin type B. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, the Pena-Shokeir phenotype, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS3 patients present at birth with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. LCCS3 can be distinguished from the original LCCS by the absence of hydrops, fractures, and multiple pterygia.,enzyme regulation:Activated by interaction with TLN2.,function:Plays a role in membrane ruffling and assembly of clathrin-coated pits at the synapse. Mediates RAC1-dependent reorganization of actin filaments (By similarity). Participates in the biosynthesis of phosphatidylinositol-4,5-bisphosphate.,similarity:Contains 1 PI5K domain.,subcellular location:Cytoplasmic, associated with the plasma membrane. Detected in focal adhesion plaques, membrane ruffles and plasma membrane invaginations.,subunit:Interacts with TLN1 and CSK (By similarity). Interacts with TLN2 and ARF6.,
Research Area
Inositol phosphate metabolism;Phosphatidylinositol signaling system;Endocytosis;Focal adhesion;Fc gamma R-mediated phagocytosis;Regulates Actin and Cytoskeleton;
