PICALM

PICALM
Identifiers
Aliases	PICALM, CALM, CLTH, LAP, phosphatidylinositol binding clathrin assembly protein
External IDs	OMIM: 603025 MGI: 2385902 HomoloGene: 111783 GeneCards: PICALM
Gene location (Human)
Chr.	Chromosome 11 (human)
End	86,069,882 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	89,862,673 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; corpus callosum; ; subcutaneous adipose tissue; ; gallbladder; ; tibial nerve; ; monocyte; ; right coronary artery; ; ascending aorta; ; left coronary artery; ; smooth muscle tissue;
	Top expressed in
	interventricular septum; ; left lung lobe; ; belly cord; ; body of femur; ; calvaria; ; sciatic nerve; ; dermis; ; spleen; ; seminal vesicula; ; brown adipose tissue;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	clathrin heavy chain binding; clathrin adaptor activity; clathrin binding; 1-phosphatidylinositol binding; protein binding; phospholipid binding; cadherin binding; SNARE binding; amyloid-beta binding; phosphatidylinositol-4,5-bisphosphate binding; tau protein binding; low-density lipoprotein particle receptor binding;
Cellular component	clathrin coat of coated pit; Golgi apparatus; postsynaptic membrane; membrane; neurofibrillary tangle; neuronal cell body; clathrin-coated pit; AP-2 adaptor complex; presynaptic membrane; cytoplasmic vesicle; nucleus; clathrin-coated vesicle; intracellular anatomical structure; vesicle; perinuclear region of cytoplasm; cytosol; intracellular membrane-bounded organelle; early endosome; plasma membrane; cell surface; intrinsic component of membrane; clathrin-coated endocytic vesicle; endosome to plasma membrane transport vesicle; synaptic vesicle; extrinsic component of presynaptic endocytic zone membrane;
Biological process	regulation of endocytosis; endocytosis; iron ion homeostasis; receptor internalization; positive regulation of neuron death; regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process; negative regulation of gene expression; regulation of protein localization; negative regulation of receptor-mediated endocytosis; positive regulation of transcription, DNA-templated; endosomal transport; clathrin coat assembly; cell population proliferation; vesicle-mediated transport; axonogenesis; hemopoiesis; clathrin-dependent endocytosis; negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process; synaptic vesicle maturation; positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process; vesicle cargo loading; receptor-mediated endocytosis; dendrite morphogenesis; positive regulation of amyloid-beta formation; membrane organization; iron ion import across plasma membrane; vesicle budding from membrane; learning or memory; positive regulation of GTPase activity; protein-containing complex assembly; regulation of vesicle size; membrane bending; amyloid-beta clearance by transcytosis; regulation of amyloid-beta formation; negative regulation of protein localization to plasma membrane; clathrin-coated pit assembly; negative regulation of protein localization to cell surface; synaptic vesicle budding from presynaptic endocytic zone membrane; synaptic vesicle endocytosis;
	Sources:Amigo / QuickGO
Orthologs
	8301
	233489
	ENSG00000073921
	ENSMUSG00000039361
	Q13492
	Q7M6Y3
	NM_001008660; NM_001206946; NM_001206947; NM_007166
NM_001252520; NM_001252521; NM_001252522; NM_001252523; NM_001252524;
	NM_146194; NM_001360867
	NP_001008660; NP_001193875; NP_001193876; NP_009097; NP_001008660.1
NP_001239449; NP_001239450; NP_001239451; NP_001239452; NP_001239453;
	NP_666306; NP_001347796
	Wikidata
View/Edit Human	View/Edit Mouse

Phosphatidylinositol binding clathrin assembly protein, also known as PICALM, is a protein which in humans is encoded by the PICALM gene.^[5]

Interactions

PICALM has been shown to interact with CLTC.^[6]

Clinical significance

In humans, certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000073921 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039361 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: PICALM phosphatidylinositol binding clathrin assembly protein".
↑ Tebar, F; Bohlander S K; Sorkin A (Aug 1999). "Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic" (PDF). Mol. Biol. Cell. UNITED STATES. 10 (8): 2687–702. doi:10.1091/mbc.10.8.2687. ISSN 1059-1524. PMC 25500. PMID 10436022.
↑
Harold D, Abraham R, Hollingworth P, et al. (September 2009). "Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease". Nat. Genet. 41 (10): 1088–93. doi:10.1038/ng.440. PMC 2845877. PMID 19734902.
- Alice Park (2009-09-07). "Breakthrough Discoveries of Alzheimer's Genes". Time. Archived from the original on 2009-09-09.

Ron D, Habener JF (1992). "CHOP, a novel developmentally regulated nuclear protein that dimerizes with transcription factors C/EBP and LAP and functions as a dominant-negative inhibitor of gene transcription". Genes Dev. 6 (3): 439–53. doi:10.1101/gad.6.3.439. PMID 1547942.
Dreyling MH, Martinez-Climent JA, Zheng M, et al. (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". Proc. Natl. Acad. Sci. U.S.A. 93 (10): 4804–9. Bibcode:1996PNAS...93.4804D. doi:10.1073/pnas.93.10.4804. PMC 39360. PMID 8643484.
Silliman CC, McGavran L, Wei Q, et al. (1998). "Alternative splicing in wild-type AF10 and CALM cDNAs and in AF10-CALM and CALM-AF10 fusion cDNAs produced by the t(10;11)(p13-14;q14-q21) suggests a potential role for truncated AF10 polypeptides". Leukemia. 12 (9): 1404–10. doi:10.1038/sj.leu.2401109. PMID 9737689.
Tebar F, Bohlander SK, Sorkin A (1999). "Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic". Mol. Biol. Cell. 10 (8): 2687–702. doi:10.1091/mbc.10.8.2687. PMC 25500. PMID 10436022.
Kim JA, Kim SR, Jung YK, et al. (2000). "Properties of GST-CALM expressed in E. coli". Exp. Mol. Med. 32 (2): 93–9. doi:10.1038/emm.2000.17. PMID 10926122. S2CID 9913485.
Wechsler DS, Engstrom LD, Alexander BM, et al. (2003). "A novel chromosomal inversion at 11q23 in infant acute myeloid leukemia fuses MLL to CALM, a gene that encodes a clathrin assembly protein" (PDF). Genes Chromosomes Cancer. 36 (1): 26–36. doi:10.1002/gcc.10136. hdl:2027.42/35133. PMID 12461747. S2CID 6463540.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
Park SY, Ha BG, Choi GH, et al. (2004). "EHD2 interacts with the insulin-responsive glucose transporter (GLUT4) in rat adipocytes and may participate in insulin-induced GLUT4 recruitment". Biochemistry. 43 (23): 7552–62. doi:10.1021/bi049970f. PMID 15182197.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Meyerholz A, Hinrichsen L, Groos S, et al. (2006). "Effect of clathrin assembly lymphoid myeloid leukemia protein depletion on clathrin coat formation". Traffic. 6 (12): 1225–34. doi:10.1111/j.1600-0854.2005.00355.x. PMID 16262731. S2CID 8040699.
Archangelo LF, Gläsner J, Krause A, Bohlander SK (2006). "The novel CALM interactor CATS influences the subcellular localization of the leukemogenic fusion protein CALM/AF10". Oncogene. 25 (29): 4099–109. doi:10.1038/sj.onc.1209438. PMID 16491119.
Deshpande AJ, Cusan M, Rawat VP, et al. (2007). "Acute myeloid leukemia is propagated by a leukemic stem cell with lymphoid characteristics in a mouse model of CALM/AF10-positive leukemia". Cancer Cell. 10 (5): 363–74. doi:10.1016/j.ccr.2006.08.023. PMID 17097559.
Abdelhaleem M, Beimnet K, Kirby-Allen M, et al. (2007). "High incidence of CALM-AF10 fusion and the identification of a novel fusion transcript in acute megakaryoblastic leukemia in children without Down's syndrome". Leukemia. 21 (2): 352–3. doi:10.1038/sj.leu.2404503. PMID 17170719.
Ashihara E, Nakamura S, Inaba T, et al. (2007). "A novel AF10-CALM fusion transcript in gamma/delta-T cell type lymphoblastic lymphoma". Am. J. Hematol. 82 (9): 859–60. doi:10.1002/ajh.21021. PMID 17597474. S2CID 72275219.
Caudell D, Zhang Z, Chung YJ, Aplan PD (2007). "Expression of a CALM-AF10 fusion gene leads to Hoxa cluster overexpression and acute leukemia in transgenic mice". Cancer Res. 67 (17): 8022–31. doi:10.1158/0008-5472.CAN-06-3749. PMC 1986634. PMID 17804713.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000073921 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039361 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: PICALM phosphatidylinositol binding clathrin assembly protein".

[pmid10436022-6] Tebar, F; Bohlander S K; Sorkin A (Aug 1999). "Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic" (PDF). Mol. Biol. Cell. UNITED STATES. 10 (8): 2687–702. doi:10.1091/mbc.10.8.2687. ISSN 1059-1524. PMC 25500. PMID 10436022.

[pmid19734902-7] Harold D, Abraham R, Hollingworth P, et al. (September 2009). "Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease". Nat. Genet. 41 (10): 1088–93. doi:10.1038/ng.440. PMC 2845877. PMID 19734902.
Alice Park (2009-09-07). "Breakthrough Discoveries of Alzheimer's Genes". Time. Archived from the original on 2009-09-09.

[mwfQ] Alice Park (2009-09-07). "Breakthrough Discoveries of Alzheimer's Genes". Time. Archived from the original on 2009-09-09.

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Interactions

Clinical significance

References

Further reading