PICALM

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]

Description

Phosphatidylinositol binding clathrin assembly protein

Tissue specificity

Low tissue specificity

Subcell location

Vesicles

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

11 (85957175 - 86069882)

Ensembl ID

ENSG00000073921  (ver. 103.38)

Orthologs

Mouse Picalm: ENSMUSG00000039361

UniProt

Q13492

neXtProt

NX_Q13492

Human splice variants
Mouse splice variants

Protein structure