PICALM Lysate – Tissue Lysate

This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]

PICALM: Assembly protein recruiting clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. May be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. Involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal aberration involving PICALM is found in diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with MLLT10. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Oncoprotein; Vesicle

Chromosomal Location of Human Ortholog: 11q14

Cellular Component: presynaptic membrane; Golgi apparatus; postsynaptic membrane; intracellular membrane-bound organelle; membrane; cell soma; perinuclear region of cytoplasm; AP-2 adaptor complex; coated pit; nucleus; clathrin coat of coated pit; vesicle

Molecular Function: protein binding; clathrin binding; clathrin heavy chain binding; phosphatidylinositol binding

Biological Process: receptor-mediated endocytosis; synaptic vesicle maturation; dendrite morphogenesis; positive regulation of transcription, DNA-dependent; endosome transport; vesicle-mediated transport; clathrin cage assembly; cell proliferation; iron ion homeostasis; regulation of protein localization; axonogenesis; receptor internalization; regulation of endocytosis; negative regulation of receptor-mediated endocytosis; hemopoiesis; protein complex assembly

Disease: Leukemia, Acute Myeloid