phosphatidylinositol-binding clathrin assembly protein; clathrin assembly lymphoid myeloid leukemia protein (PICALM, CALM)

Function

• assembly protein recruiting clathrin & adaptor protein complex-2 (AP2) to cell membranes at sitesof coated-pit formation & 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
• binds clathrin; involves primarily the C-terminal sequences, but the full-length protein is required for full binding capacity.
• role in lipid metabolism
  • binds phosphatidylinositol-4,5-bisphosphate

Structure

• homology to murine clathrin assembly protein AP3
• contains 1 ENTH (epsin N-terminal homology) domain

Compartment

• membrane, clathrin-coated pit, clathrin-coated vesicle
• Golgi, cytoplasmic vesicle
• colocalized with clathrin in the Golgi area

Alternative splicing

named isoforms=3

Expression

• expressed in all tissues examined
• expressed in blood-CSF barrier

Pathology

• chromosomal translocation t(10;11)(p13;q14) involving PICALM with MLLT10 is found in diffuse histiocytic lymphomas
• implicated in Alzheimer's disease

More general terms

• membrane protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8301
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8301
• OMIM: https://mirror.omim.org/entry/603025
• UniProt: http://www.uniprot.org/uniprot/Q13492.html