PICALM (clathrin assembly lymphoid myeloid leukemia gene)
1998-01-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
11q14.2
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
CALM,CLTH,LAP
FUSION GENES
DNA/RNA
Transcription
Major mRNA: 4 kb; other: 3 and 9 kb.
Proteins
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 name
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 gene
5 PICALM - 3 MLLT10
Fusion protein
Both PICALM-MLLT10 and the reciprocal MLLT10-PICALM are expressed.
Entity name
Disease
AML and B-cell ALL (Meyer et al., 2013; Wechsler et al., 2003).
Hybrid gene
5 KMT2A - 3 PICALM
Fusion 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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8643484 | 1996 | 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 et al |
| 9365832 | 1997 | Hematologic malignancies with the t(10;11) (p13;q21) have the same molecular event and a variety of morphologic or immunologic phenotypes. | Kobayashi H et al |
| 23628958 | 2013 | The MLL recombinome of acute leukemias in 2013. | Meyer C et al |
| 12461747 | 2003 | 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 et al |
Other Information
Locus ID:
NCBI: 8301
MIM: 603025
HGNC: 15514
Ensembl: ENSG00000073921
Variants:
dbSNP: 8301
ClinVar: 8301
TCGA: ENSG00000073921
COSMIC: PICALM
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10407 | calcium channel blockers | Chemical | ClinicalAnnotation | associated | PD | 24192120 | |
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | 24192120 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38007652 | 2023 | PICALM Variation Moderates the Relationships of APOE ɛ4 with Alzheimer's Disease Cerebrospinal Biomarkers and Memory Function Among Non-Demented Population. | 0 |
| 38007652 | 2023 | PICALM Variation Moderates the Relationships of APOE ɛ4 with Alzheimer's Disease Cerebrospinal Biomarkers and Memory Function Among Non-Demented Population. | 0 |
| 36552756 | 2022 | PICALM and Alzheimer's Disease: An Update and Perspectives. | 21 |
| 36552756 | 2022 | PICALM and Alzheimer's Disease: An Update and Perspectives. | 21 |
| 32914893 | 2021 | Association of PICALM with Cognitive Impairment in Parkinson's Disease. | 2 |
| 33386803 | 2021 | PICALM mRNA Expression in the Blood of Patients with Neurodegenerative Diseases and Geriatric Depression. | 10 |
| 33397371 | 2021 | LncRNA CRNDE attenuates chemoresistance in gastric cancer via SRSF6-regulated alternative splicing of PICALM. | 75 |
| 34155137 | 2021 | CALM supports clathrin-coated vesicle completion upon membrane tension increase. | 9 |
| 34311200 | 2021 | PICALM regulates cathepsin D processing and lysosomal function. | 2 |
| 34650147 | 2021 | Influence of PICALM and CLU risk variants on beta EEG activity in Alzheimer's disease patients. | 3 |
| 32914893 | 2021 | Association of PICALM with Cognitive Impairment in Parkinson's Disease. | 2 |
| 33386803 | 2021 | PICALM mRNA Expression in the Blood of Patients with Neurodegenerative Diseases and Geriatric Depression. | 10 |
| 33397371 | 2021 | LncRNA CRNDE attenuates chemoresistance in gastric cancer via SRSF6-regulated alternative splicing of PICALM. | 75 |
| 34155137 | 2021 | CALM supports clathrin-coated vesicle completion upon membrane tension increase. | 9 |
| 34311200 | 2021 | PICALM regulates cathepsin D processing and lysosomal function. | 2 |
Citation
Jean-Loup Huret
PICALM (clathrin assembly lymphoid myeloid leukemia gene)
Atlas Genet Cytogenet Oncol Haematol. 1998-01-01
Online version: http://atlasgeneticsoncology.org/gene/64/
