PCLO

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Piccolo presynaptic cytomatrix protein
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PCLO ; ACZ
External IDs OMIM604918 MGI1349390 HomoloGene69111 GeneCards: PCLO Gene
RNA expression pattern
PBB GE PCLO 210650 s at tn.png
PBB GE PCLO 213558 at tn.png
PBB GE PCLO gnf1h01744 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 27445 26875
Ensembl ENSG00000186472 ENSMUSG00000061601
UniProt Q9Y6V0 Q9QYX7
RefSeq (mRNA) NM_014510 NM_001110796
RefSeq (protein) NP_055325 NP_001104266
Location (UCSC) Chr 7:
82.39 – 82.79 Mb
Chr 5:
14.51 – 14.86 Mb
PubMed search [1] [2]

Protein piccolo is a protein that in humans is encoded by the PCLO gene.[1][2][3]

Synaptic vesicles dock and fuse in the active zone of the plasma membrane at chemical synapses. The presynaptic cytoskeletal matrix (PCM), which is associated with the active zone and is situated between synaptic vesicles, is thought to be involved in maintaining the neurotransmitter release site in register with the postsynaptic reception apparatus. The cycling of synaptic vesicles is a multistep process involving a number of proteins (see MIM 603215). Among the components of the PCM that orchestrate these events are Bassoon (BSN; MIM 604020), RIM (RIMS1; MIM 606629), Oboe (RIMS2; MIM 606630), and Piccolo (PCLO).[supplied by OMIM][3]

Interactions[edit]

PCLO has been shown to interact with GIT1.[4]

Clinical relevance[edit]

Recurrent mutations in this gene have been associated to cases of diffuse large B-cell lymphoma.[5]

References[edit]

  1. ^ Cases-Langhoff C, Voss B, Garner AM, Appeltauer U, Takei K, Kindler S, Veh RW, De Camilli P, Gundelfinger ED, Garner CC (Dec 1996). "Piccolo, a novel 420 kDa protein associated with the presynaptic cytomatrix". Eur J Cell Biol 69 (3): 214–23. PMID 8900486. 
  2. ^ Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Aug 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581. 
  3. ^ a b "Entrez Gene: PCLO piccolo (presynaptic cytomatrix protein)". 
  4. ^ Kim, Seho; Ko Jaewon, Shin Hyewon, Lee Jae-Ran, Lim Chunghun, Han Jin-Hee, Altrock Wilko D, Garner Craig C, Gundelfinger Eckart D, Premont Richard T, Kaang Bong-Kiun, Kim Eunjoon (Feb 2003). "The GIT family of proteins forms multimers and associates with the presynaptic cytomatrix protein Piccolo". J. Biol. Chem. (United States) 278 (8): 6291–300. doi:10.1074/jbc.M212287200. ISSN 0021-9258. PMID 12473661. 
  5. ^ Lohr, JG; Stojanov, P, Lawrence, MS, Auclair, D, Chapuy, B, Sougnez, C, Cruz-Gordillo, P, Knoechel, B, Asmann, YW, Slager, SL, Novak, AJ, Dogan, A, Ansell, SM, Link, BK, Zou, L, Gould, J, Saksena, G, Stransky, N, Rangel-Escareño, C, Fernandez-Lopez, JC, Hidalgo-Miranda, A, Melendez-Zajgla, J, Hernández-Lemus, E, Schwarz-Cruz Y Celis, A, Imaz-Rosshandler, I, Ojesina, AI, Jung, J, Pedamallu, CS, Lander, ES, Habermann, TM, Cerhan, JR, Shipp, MA, Getz, G, Golub, TR (Feb 17, 2012). "Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing.". Proceedings of the National Academy of Sciences of the United States of America 109 (10): 3879–84. doi:10.1073/pnas.1121343109. PMC 3309757. PMID 22343534. 

Further reading[edit]