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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 [4]
Related
clathrin assembly lymphoid-myeloid leukemia (CALM) gene
General
membrane protein
Properties
SIZE: entity length = 652 aa
MW = 71 kD
COMPARTMENT: cytoplasm
golgi
MOTIF: ENTH {14-145}
membrane region
breakpoint {648-649}
Database Correlations
OMIM 603025
UniProt Q13492
Pfam PF07651
Entrez Gene 8301
Kegg hsa:8301
References
- UniProt :accession Q13492
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/CALM.html
- OMIM :accession 603025
- Tims BM, Vromen EM, Mjaavatten O et al
Cerebrospinal fluid proteomics in patients with Alzheimer's disease reveals five
molecular subtypes with distinct genetic risk profiles.
Nat Aging. 2024 Jan;4(1):33-47.
PMID: 38195725 PMCID: PMC10798889 Free PMC article.
https://www.nature.com/articles/s43587-023-00550-7