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
PICALM
LOCATION
11q14.2
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
8301
ALIAS
CALM,CLTH,LAP
FUSION GENES
Show Gene Fusions

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

Entity name
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 gene
5 PICALM - 3 MLLT10
Fusion protein
Both PICALM-MLLT10 and the reciprocal MLLT10-PICALM are expressed.
Entity name
t(11;11)(q14;q23) KMT2A / PICALM
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

Article 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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10407calcium channel blockersChemicalClinicalAnnotationassociatedPD24192120
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD24192120

References

Pubmed IDYearTitleCitations
380076522023PICALM Variation Moderates the Relationships of APOE ɛ4 with Alzheimer's Disease Cerebrospinal Biomarkers and Memory Function Among Non-Demented Population.0
380076522023PICALM Variation Moderates the Relationships of APOE ɛ4 with Alzheimer's Disease Cerebrospinal Biomarkers and Memory Function Among Non-Demented Population.0
365527562022PICALM and Alzheimer's Disease: An Update and Perspectives.21
365527562022PICALM and Alzheimer's Disease: An Update and Perspectives.21
329148932021Association of PICALM with Cognitive Impairment in Parkinson's Disease.2
333868032021PICALM mRNA Expression in the Blood of Patients with Neurodegenerative Diseases and Geriatric Depression.10
333973712021LncRNA CRNDE attenuates chemoresistance in gastric cancer via SRSF6-regulated alternative splicing of PICALM.75
341551372021CALM supports clathrin-coated vesicle completion upon membrane tension increase.9
343112002021PICALM regulates cathepsin D processing and lysosomal function.2
346501472021Influence of PICALM and CLU risk variants on beta EEG activity in Alzheimer's disease patients.3
329148932021Association of PICALM with Cognitive Impairment in Parkinson's Disease.2
333868032021PICALM mRNA Expression in the Blood of Patients with Neurodegenerative Diseases and Geriatric Depression.10
333973712021LncRNA CRNDE attenuates chemoresistance in gastric cancer via SRSF6-regulated alternative splicing of PICALM.75
341551372021CALM supports clathrin-coated vesicle completion upon membrane tension increase.9
343112002021PICALM 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/picalm-(clathrin-assembly-lymphoid-myeloid-leukemia-gene)