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Gene Review:

PICALM - phosphatidylinositol binding clathrin...

Homo sapiens

Synonyms: CALM, CLTH, Clathrin assembly lymphoid myeloid leukemia protein, LAP, Phosphatidylinositol-binding clathrin assembly protein

Dreyling, M.H. et al., Carlson, K.M. et al., Meyerholz, A. et al., Vecchi, M. et al., Wechsler, D.S. et al., et al.

Wechsler, Engstrom, Alexander, Motto, Roulston,

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Disease relevance of PICALM

The recurrent t(10;11)(p13;q14) translocation, usually found in acute myeloid leukemia (AML) and T-ALL, merges PICALM to MLLT10 [1].
The t(10;11)(p12-p13;q14-q21) observed in a subset of patients with either acute lymphoblastic leukemia or acute myeloid leukemia has been shown to result in the fusion of AF10 on chromosome 10 with CALM (also named CLTH) on chromosome 11 [2].

High impact information on PICALM

Many endocytic proteins, including eps15, epsin1, the clathrin assembly lymphoid myeloid leukemia (CALM), and alpha-adaptin, accumulate in the nucleus when nuclear export is inhibited [3].
Using a combination of positional cloning and candidate gene approach, we cloned the breakpoint and were able to show that AF10 is fused to a novel gene that we named CALM (Clathrin Assembly Lymphoid Myeloid leukemia gene) located at 11q14 [4].
The clathrin assembly lymphoid myeloid leukemia (CALM) gene encodes a putative homologue of the clathrin assembly synaptic protein AP180 [5].
We used panhandle PCR to determine that this rearrangement juxtaposed the MLL (Mixed-Lineage Leukemia) gene to the CALM (Clathrin Assembly Lymphoid Myeloid leukemia) gene at 11q14-q21 [6].

Anatomical context of PICALM

We recently cloned CALM (Clathrin Assembly Lymphoid Myeloid leukemia gene), the fusion partner of AF10 at 11q14 in the monocytic cell line U937 [7].
The endocytic accessory clathrin assembly lymphoid myeloid leukemia protein (CALM) is the ubiquitously expressed homolog of the neuron-specific protein AP180 that has been implicated in the retrieval of synaptic vesicle [8].

References

Acute monocytic leukemia with coexpression of minor BCR-ABL1 and PICALM-MLLT10 fusion genes along with overexpression of HOXA9. Sindt, A., Deau, B., Brahim, W., Staal, A., Visanica, S., Villarese, P., Rault, J.P., Macintyre, E., Delabesse, E. Genes Chromosomes Cancer (2006) [Pubmed]
Identification and molecular characterization of CALM/AF10fusion products in T cell acute lymphoblastic leukemia and acute myeloid leukemia. Carlson, K.M., Vignon, C., Bohlander, S., Martinez-Climent, J.A., Le Beau, M.M., Rowley, J.D. Leukemia (2000) [Pubmed]
Nucleocytoplasmic shuttling of endocytic proteins. Vecchi, M., Polo, S., Poupon, V., van de Loo, J.W., Benmerah, A., Di Fiore, P.P. J. Cell Biol. (2001) [Pubmed]
The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family. Dreyling, M.H., Martinez-Climent, J.A., Zheng, M., Mao, J., Rowley, J.D., Bohlander, S.K. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic. Tebar, F., Bohlander, S.K., Sorkin, A. Mol. Biol. Cell (1999) [Pubmed]
A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein. Wechsler, D.S., Engstrom, L.D., Alexander, B.M., Motto, D.G., Roulston, D. Genes Chromosomes Cancer (2003) [Pubmed]
MLL and CALM are fused to AF10 in morphologically distinct subsets of acute leukemia with translocation t(10;11): both rearrangements are associated with a poor prognosis. Dreyling, M.H., Schrader, K., Fonatsch, C., Schlegelberger, B., Haase, D., Schoch, C., Ludwig, W., Löffler, H., Büchner, T., Wörmann, B., Hiddemann, W., Bohlander, S.K. Blood (1998) [Pubmed]
Effect of clathrin assembly lymphoid myeloid leukemia protein depletion on clathrin coat formation. Meyerholz, A., Hinrichsen, L., Groos, S., Esk, P.C., Brandes, G., Ungewickell, E.J. Traffic (2005) [Pubmed]

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AgaP_AGAP010087	Anopheles gambiae str. PEST
PICALM	Bos taurus
PICALM	Canis lupus familiaris
picalma	Danio rerio
lap	Drosophila melanogaster
PICALM	Gallus gallus
PICALM	Macaca mulatta
Picalm	Mus musculus
PICALM	Pan troglodytes
Picalm	Rattus norvegicus
picalm.2	Xenopus (Silurana) tropicalis

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