PCLO
| Piccolo presynaptic cytomatrix protein | |||||||||||||
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| Symbols | PCLO ; ACZ | ||||||||||||
| External IDs | OMIM: 604918 MGI: 1349390 HomoloGene: 69111 GeneCards: PCLO Gene | ||||||||||||
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| 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: 82.38 – 82.79 Mb | Chr 5: 14.51 – 14.86 Mb | |||||||||||
| PubMed search | |||||||||||||
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
PCLO has been shown to interact with GIT1.[4]
Clinical relevance
Recurrent mutations in this gene have been associated to cases of diffuse large B-cell lymphoma.[5]
References
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 "Entrez Gene: PCLO piccolo (presynaptic cytomatrix protein)".
- ↑ 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.
- ↑ 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
- "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Wang X; Kibschull M; Laue MM et al. (1999). "Aczonin, a 550-Kd Putative Scaffolding Protein of Presynaptic Active Zones, Shares Homology Regions with Rim and Bassoon and Binds Profilin". J. Cell Biol. 147 (1): 151–62. doi:10.1083/jcb.147.1.151. PMC 2164979. PMID 10508862.
- Fenster SD; Chung WJ; Zhai R et al. (2000). "Piccolo, a presynaptic zinc finger protein structurally related to bassoon". Neuron 25 (1): 203–14. doi:10.1016/S0896-6273(00)80883-1. PMID 10707984.
- Fenster SD, Garner CC (2002). "Gene structure and genetic localization of the PCLO gene encoding the presynaptic active zone protein Piccolo". Int. J. Dev. Neurosci. 20 (3–5): 161–71. doi:10.1016/S0736-5748(02)00046-1. PMID 12175852.
- 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. PMC 139241. PMID 12477932.
- Scherer SW; Cheung J; MacDonald JR et al. (2003). "Human Chromosome 7: DNA Sequence and Biology". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
- Hillier LW; Fulton RS; Fulton LA et al. (2003). "The DNA sequence of human chromosome 7". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
- Takao-Rikitsu E; Mochida S; Inoue E et al. (2004). "Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release". J. Cell Biol. 164 (2): 301–11. doi:10.1083/jcb.200307101. PMC 2172332. PMID 14734538.
- 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.