LMPD Database

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LMP001447

UniProt Annotations

Entry Information
Gene Namephosphatidylinositol binding clathrin assembly protein
Protein EntryPICAL_HUMAN
UniProt IDQ13492
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=5; Name=1; Synonyms=Type I; IsoId=Q13492-1; Sequence=Displayed; Name=2; Synonyms=Type II; IsoId=Q13492-2; Sequence=VSP_004067; Name=3; IsoId=Q13492-3; Sequence=VSP_009607, VSP_009608; Note=No experimental confirmation available.; Name=4; IsoId=Q13492-4; Sequence=VSP_044567, VSP_009607; Note=No experimental confirmation available.; Name=5; IsoId=Q13492-5; Sequence=VSP_044568; Note=No experimental confirmation available.;
DiseaseNote=A chromosomal aberration involving PICALM is found in diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with MLLT10.
FunctionAssembly protein recruiting clathrin and adapter 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.
Sequence CautionSequence=BAE06099.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ;
SimilarityBelongs to the PICALM/SNAP91 family.
SimilarityContains 1 ENTH (epsin N-terminal homology) domain.
Subcellular LocationMembrane, clathrin-coated pit. Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle. Nucleus. Note=Colocalized with clathrin in the Golgi area. Interaction with FAM64A may target PICALM to the nucleus in some cells.
SubunitBinds clathrin; involves primarily the C-terminal sequences, but the full-length protein is required for full binding capacity. Binds phosphatidylinositol 4,5- bisphosphate. Interacts with FAM64A; this interaction may change the subcellular location into the nucleus. {ECO
Tissue SpecificityExpressed in all tissues examined.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CALM.html";