PIP5K1C Antibody – Rabbit

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]

PIP5K1C: a member of the type I phosphatidylinositol-4-phosphate 5-kinase family of enzymes. A similar protein in mice is found in synapses and focal adhesion plaques, and binds the FERM domain of talin through its C-terminus.

Protein type: Kinase, lipid; Motility/polarity/chemotaxis; EC 2.7.1.68; Carbohydrate Metabolism - inositol phosphate

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: focal adhesion; endomembrane system; uropod; cytosol; nucleus; phagocytic cup

Molecular Function: protein binding; 1-phosphatidylinositol-4-phosphate 5-kinase activity; ATP binding

Biological Process: neutrophil chemotaxis; axon guidance; synaptic vesicle exocytosis; cell-cell adhesion; phosphoinositide phosphorylation; cytoskeletal anchoring; phospholipid metabolic process; synaptic vesicle endocytosis; phosphatidylinositol biosynthetic process; actin cytoskeleton organization and biogenesis; phagocytosis

Disease: Lethal Congenital Contracture Syndrome 3