| Written | 1998-01 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Alias_symbol (synonym) | CALM |
| CLTH | |
| Other alias | |
| HGNC (Hugo) | PICALM |
| LocusID (NCBI) | 8301 |
| Atlas_Id | 64 |
| Location | 11q14.2 [Link to chromosome band 11q14] |
| Location_base_pair | Starts at 85957171 and ends at 86069097 bp from pter ( according to hg19-Feb_2009) [Mapping PICALM.png] |
 | |
| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
| Fusion genes (updated 2016) | ARRB1 (11q13.4) / PICALM (11q14.2) | C11orf73 (11q14.2) / PICALM (11q14.2) | CCDC83 (11q14.1) / PICALM (11q14.2) |
| COL6A3 (2q37.3) / PICALM (11q14.2) | DLG2 (11q14.1) / PICALM (11q14.2) | KMT2A (11q23.3) / PICALM (11q14.2) | |
| MLLT10 (10p12.31) / PICALM (11q14.2) | PICALM (11q14.2) / BRDT (1p22.1) | PICALM (11q14.2) / CCDC81 (11q14.2) | |
| PICALM (11q14.2) / DIAPH1 (5q31.3) | PICALM (11q14.2) / KMT2A (11q23.3) | PICALM (11q14.2) / KMT2AT10 () | |
| PICALM (11q14.2) / MLLT10 (10p12.31) | PICALM (11q14.2) / PICALM (11q14.2) | PICALM (11q14.2) / RP11-849H4.2 () | |
| PICALM (11q14.2) / TF (3q22.1) | RCC1 (1p35.3) / PICALM (11q14.2) | SYTL2 (11q14.1) / PICALM (11q14.2) | |
| TMEM123 (11q22.2) / PICALM (11q14.2) | TMX2 (11q12.1) / PICALM (11q14.2) | TYR (11q14.3) / PICALM (11q14.2) | |
| cytochrome_b () / PICALM (11q14.2) |
| Note | Must not be confused with CALM1 (calmodulin 1, sitting in 14q24-31), or with neurofibromatosis type 6 (also called CALM, for: cafe au lait spots multiple); therefore the name is likely to change. |
| DNA/RNA |
| Transcription | Major mRNA: 4 kb; other: 3 and 9 kb. |
| Protein |
 | |
| Description | 652 amino acids. |
| Function | Role in the integration of signals from different pathways (clathrin, phosphoinositols, receptor-mediated endocytosis). |
| Homology | With AP3 (Adaptor Related Proteins), a clathrin assembly protein, and SNAP91 (AP180). |
| Implicated in |
| Entity | t(10;11)(p13;q14-21) PICALM / MLLT10 |
| Disease | T-cell acute lymphoblastic leukemia (ALL) mainly; at times acute myeloid leukemia (AML) and/or AML with T-cell markers (Dreyling et al., 1996; Kobayashi et al., 1997). |
| Prognosis | uncertain (median survival 2 yrs?). |
| Cytogenetics | may well be confused with the t(10;11)(p12;q23) , where KMT2A in 11q23 is involved, instead of PICALM |
| Hybrid/Mutated Gene | 5' PICALM - 3' MLLT10 |
| Abnormal Protein | Both PICALM-MLLT10 and the reciprocal MLLT10-PICALM are expressed. |
| Entity | t(11;11)(q14;q23) KMT2A / PICALM |
| Disease | AML and B-cell ALL (Meyer et al., 2013; Wechsler et al., 2003). |
| Hybrid/Mutated Gene | 5' KMT2A - 3' PICALM |
| Abnormal Protein | The KMT2A/PICALM fusion protein was contained 1803 amino acids and included 1406 amino acids from KMT2A A-T hooks and repression domain, and a PICALM-derived clathrin-binding domain in Wechsler et al., 2003. |
| Breakpoints |
 | |
| Bibliography |
| 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 MH, Martinez-Climent JA, Zheng M, Mao J, Rowley JD, Bohlander SK. |
| Proc Natl Acad Sci U S A. 1996 May 14;93(10):4804-9. |
| PMID 8643484 |
| Hematologic malignancies with the t(10;11) (p13;q21) have the same molecular event and a variety of morphologic or immunologic phenotypes. |
| Kobayashi H, Hosoda F, Maseki N, Sakurai M, Imashuku S, Ohki M, Kaneko Y. |
| Genes Chromosomes Cancer. 1997 Nov;20(3):253-9. |
| PMID 9365832 |
| The MLL recombinome of acute leukemias in 2013. |
| Meyer C, Hofmann J, Burmeister T, Gröger D, Park TS, Emerenciano M, Pombo de Oliveira M, Renneville A, Villarese P, Macintyre E, Cavé H, Clappier E, Mass-Malo K, Zuna J, Trka J, De Braekeleer E, De Braekeleer M, Oh SH, Tsaur G, Fechina L, van der Velden VH, van Dongen JJ, Delabesse E, Binato R, Silva ML, Kustanovich A, Aleinikova O, Harris MH, Lund-Aho T, Juvonen V, Heidenreich O, Vormoor J, Choi WW, Jarosova M, Kolenova A, Bueno C, Menendez P, Wehner S, Eckert C, Talmant P, Tondeur S, Lippert E, Launay E, Henry C, Ballerini P, Lapillone H, Callanan MB, Cayuela JM, Herbaux C, Cazzaniga G, Kakadiya PM, Bohlander S, Ahlmann M, Choi JR, Gameiro P, Lee DS, Krauter J, Cornillet-Lefebvre P, Te Kronnie G, Schäfer BW, Kubetzko S, Alonso CN, zur Stadt U, Sutton R, Venn NC, Izraeli S, Trakhtenbrot L, Madsen HO, Archer P, Hancock J, Cerveira N, Teixeira MR, Lo Nigro L, Möricke A, Stanulla M, Schrappe M, Sedék L, Szczepa?ski T, Zwaan CM, Coenen EA, van den Heuvel-Eibrink MM, Strehl S, Dworzak M, Panzer-Grümayer R, Dingermann T, Klingebiel T, Marschalek R. |
| Leukemia. 2013 Nov;27(11):2165-76. doi: 10.1038/leu.2013.135. |
| PMID 23628958 |
| A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein. |
| Wechsler DS, Engstrom LD, Alexander BM, Motto DG, Roulston D. |
| Genes Chromosomes Cancer. 2003 Jan;36(1):26-36. |
| PMID 12461747 |
| Citation |
| This paper should be referenced as such : |
| Jean-Loup Huret |
| PICALM (phosphatidylinositol binding clathrin assembly protein) |
| Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):1-1. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/CALMID64.html |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ] |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
Lung: Translocations in Small Cell Carcinoma
|
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Jun 7 11:57:55 CEST 2017 |
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