PICALM

For the anti-inflammatory ointment called Picalm, see Piketoprofen.

PICALM
Identifiers
Aliases	PICALM , CALM, CLTH, LAP, phosphatidylinositol binding clathrin assembly protein
External IDs	OMIM: 603025; MGI: 2385902; HomoloGene: 111783; GeneCards: PICALM; OMA:PICALM - orthologs
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|7 50.47 cM Start 89,779,421 bp [2] End 89,862,673 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon tibial arteries corpus callosum subcutaneous adipose tissue gallbladder tibial nerve monocyte right coronary artery C1 segment ascending aorta Top expressed in fetal liver hematopoietic progenitor cell interventricular septum tibiofemoral joint stroma of bone marrow left lung lobe human fetus umbilical cord body of femur genital tubercle tunica media of zone of aorta More reference expression data BioGPS 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 soma 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 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: 89.78 – 89.86 Mb PubMed search [3] [4]
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. 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. 10 (8). UNITED STATES: 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.
   • Alice Park (2009-09-07). "Breakthrough Discoveries of Alzheimer's Genes". Time . Archived from the original on 2009-09-09.

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. 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.