PICALM (clathrin assembly lymphoid myeloid leukemia gene)

1998-01-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
LOCATION
11q14.2
IMAGE
Atlas 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

Atlas Image

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

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.
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

Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors
86434841996The 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
93658321997Hematologic 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
236289582013The MLL recombinome of acute leukemias in 2013.Meyer C et al
124617472003A 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

Gene IDTranscript IDUniprot
ENSG00000073921ENST00000356360Q13492
ENSG00000073921ENST00000393346Q13492
ENSG00000073921ENST00000393346A0A024R5P1
ENSG00000073921ENST00000525162E9PI56
ENSG00000073921ENST00000526033Q13492
ENSG00000073921ENST00000526961H0YD48
ENSG00000073921ENST00000528256E9PKP6
ENSG00000073921ENST00000528398Q13492
ENSG00000073921ENST00000529016H0YCY1
ENSG00000073921ENST00000529760H0YEH1
ENSG00000073921ENST00000530542H0YEF7
ENSG00000073921ENST00000530692H0YEY8
ENSG00000073921ENST00000531558E9PJT1
ENSG00000073921ENST00000531930E9PLJ8
ENSG00000073921ENST00000532041E9PK13
ENSG00000073921ENST00000532317Q13492
ENSG00000073921ENST00000532317A0A024R5L7
ENSG00000073921ENST00000532603H0YE97
ENSG00000073921ENST00000534412E9PJT1
ENSG00000073921ENST00000630913E9PK13

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722
Clathrin-mediated endocytosisREACTOMER-HSA-8856828
Cargo recognition for clathrin-mediated endocytosisREACTOMER-HSA-8856825

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10407calcium channel blockersChemicalClinicalAnnotationassociatedPD24192120
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD24192120

References

Pubmed IDYearTitleCitations
197349022009Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.990
197349022009Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.990
204606222010Genome-wide analysis of genetic loci associated with Alzheimer disease.461
206970302010Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.158
206970302010Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.158
205347412010Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.108
205347412010Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.108
205583872010Genetic variation and neuroimaging measures in Alzheimer disease.106
205546272010Replication of CLU, CR1, and PICALM associations with alzheimer disease.86
205546272010Replication of CLU, CR1, and PICALM associations with alzheimer disease.86

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/picalm