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Phosphatidylinositol binding clathrin assembly protein
File:PBB Protein PICALM image.jpg
PDB rendering based on 1hf8.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols PICALM ; LAP; CALM; CLTH
External IDs Template:OMIM5 Template:MGI HomoloGene: 31429
RNA expression pattern
File:PBB GE PICALM 212506 at tn.png
File:PBB GE PICALM 212511 at tn.png
File:PBB GE PICALM 215236 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Phosphatidylinositol binding clathrin assembly protein, also known as PICALM, is a human gene.[1]

PICALM has been shown to be associated with Alzheimer's Disease in recent publications of genome-wide association studies [1].


Interactions

PICALM has been shown to interact with CLTC.[2]

Clinical significance

In humans, certain alleles of this gene have been statistically associated with an increased risk of developing late-onset Alzheimer's disease.[3] The association has been independently replicated, however estimates of attributable risk are low [4]


References

  1. ↑ 1.0 1.1 "Entrez Gene: PICALM phosphatidylinositol binding clathrin assembly protein".
  2. ↑ Tebar, F (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. UNITED STATES. 10 (8): 2687–702. ISSN 1059-1524. PMC 25500. PMID 10436022. Unknown parameter |month= ignored (help); Unknown parameter |coauthors= ignored (help); Check date values in: |year= (help)
  3. ↑ Harold D, Abraham R, Hollingworth P; et al. (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). Unknown parameter |month= ignored (help)
  4. ↑ Seshadri S, Fitzpatrick AL, Ikram MA; et al. (2010). "Genome-wide analysis of genetic loci associated with Alzheimer disease". JAMA. 303 (18): 1832–40. doi:10.1001/jama.2010.574. PMID 20460622. Unknown parameter |month= ignored (help)

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. 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. 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. 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. 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. PMID 10926122.
  • 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". Genes Chromosomes Cancer. 36 (1): 26–36. doi:10.1002/gcc.10136. PMID 12461747.
  • 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. doi:10.1073/pnas.242603899. 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.
  • 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. 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.
  • 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.
  • 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. PMID 17804713.

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