PICALM

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

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)[1] Band 11q14.2 Start 85,957,175 bp[1] End 86,069,882 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 D3-E1|7 50.47 cM Start 90,130,213 bp[2] End 90,213,465 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • clathrin heavy chain binding • clathrin adaptor activity • clathrin binding • 1-phosphatidylinositol binding • GO:0001948 protein binding • phospholipid binding • cadherin binding • SNARE binding • amyloid-beta binding • phosphatidylinositol-4,5-bisphosphate binding • Rab GTPase 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 • cell nucleus • clathrin-coated vesicle • intracellular • vesicle • perinuclear region of cytoplasm • cytosol • intracellular membrane-bounded organelle • early endosome • cell 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 • cellular proliferation • vesicle-mediated transport • axonogenesis • haematopoiesis • 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 • cargo loading into vesicle • 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 • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity • macromolecular complex assembly • modulation of age-related behavioral decline • 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
Species	Human	Mouse
Entrez	8301	233489
Ensembl	ENSG00000073921	ENSMUSG00000039361
UniProt	Q13492	Q7M6Y3
RefSeq (mRNA)	NM_001008660 NM_001206946 NM_001206947 NM_007166	NM_001252520 NM_001252521 NM_001252522 NM_001252523 NM_001252524 NM_146194 NM_001360867
RefSeq (protein)	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
Location (UCSC)	Chr 11: 85.96 – 86.07 Mb	Chr 7: 90.13 – 90.21 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000073921 - Ensembl, May 2017
2. 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.
5. "Entrez Gene: PICALM phosphatidylinositol binding clathrin assembly protein".
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.
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. Lay summary – TIME Magazine (2009-09-06).

Further reading

• 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. 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.