Phosphatidylinositol-Binding Clathrin Assembly (PICALM) ELISA Kit for Human

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: 11q14.2

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

Molecular Function: cadherin binding; clathrin binding; clathrin heavy chain binding; low-density lipoprotein receptor binding; phosphatidylinositol binding; phosphatidylinositol-4,5-bisphosphate binding; protein binding; Rab GTPase binding

Biological Process: axonogenesis; cell proliferation; clathrin coat assembly; dendrite morphogenesis; endosomal transport; hemopoiesis; iron ion homeostasis; learning and/or memory; negative regulation of receptor-mediated endocytosis; positive regulation of GTPase activity; positive regulation of transcription, DNA-templated; protein complex assembly; receptor internalization; receptor-mediated endocytosis; regulation of endocytosis; regulation of protein localization; synaptic vesicle maturation; transcytosis; vesicle organization and biogenesis; vesicle-mediated transport

Disease: Leukemia, Acute Myeloid