Biology:PCLO
 Generic protein structure example |
Protein piccolo is a protein that in humans is encoded by the PCLO gene.[1][2][3]
Function
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
The protein product of PCLO called Piccolo has been shown to interact with number of proteins including GIT1,[4] the F-actin-binding protein Abp1,[5] PRA1,[6] TRIO,[7] DAAM1,[8] and Profilin.[9]
Clinical relevance
Recurrent mutations in this gene have been associated to cases of diffuse large B-cell lymphoma.[10] Recent evidence has shown that a homozygous, nonsense PCLO mutation is the genetic cause of the autosomal recessive neurodegenerative disorder, pontocerebellar hypoplasia type III (PCH3).[11]
References
- ↑ "Piccolo, a novel 420 kDa protein associated with the presynaptic cytomatrix". European Journal of Cell Biology 69 (3): 214–23. Mar 1996. PMID 8900486.
- ↑ "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 Research 5 (1): 31–9. Feb 1998. doi:10.1093/dnares/5.1.31. PMID 9628581.
- ↑ 3.0 3.1 "Entrez Gene: PCLO piccolo (presynaptic cytomatrix protein)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27445.
- ↑ "The GIT family of proteins forms multimers and associates with the presynaptic cytomatrix protein Piccolo". The Journal of Biological Chemistry 278 (8): 6291–300. Feb 2003. doi:10.1074/jbc.M212287200. PMID 12473661.
- ↑ Fenster, Steven D.; Kessels, Michael M.; Qualmann, Britta; Chung, Wook J.; Nash, Joanne; Gundelfinger, Eckart D.; Garner, Craig C. (2003-05-30). "Interactions between Piccolo and the actin/dynamin-binding protein Abp1 link vesicle endocytosis to presynaptic active zones". The Journal of Biological Chemistry 278 (22): 20268–20277. doi:10.1074/jbc.M210792200. PMID 12654920.
- ↑ Fenster, S. D.; Chung, W. J.; Zhai, R.; Cases-Langhoff, C.; Voss, B.; Garner, A. M.; Kaempf, U.; Kindler, S. et al. (2000-01-01). "Piccolo, a presynaptic zinc finger protein structurally related to bassoon". Neuron 25 (1): 203–214. doi:10.1016/s0896-6273(00)80883-1. PMID 10707984.
- ↑ Terry-Lorenzo, Ryan T.; Torres, Viviana I.; Wagh, Dhananjay; Galaz, Jose; Swanson, Selene K.; Florens, Laurence; Washburn, Michael P.; Waites, Clarissa L. et al. (2016-01-01). "Trio, a Rho Family GEF, Interacts with the Presynaptic Active Zone Proteins Piccolo and Bassoon". PLOS ONE 11 (12): e0167535. doi:10.1371/journal.pone.0167535. PMID 27907191. Bibcode: 2016PLoSO..1167535T.
- ↑ Wagh, Dhananjay; Terry-Lorenzo, Ryan; Waites, Clarissa L.; Leal-Ortiz, Sergio A.; Maas, Christoph; Reimer, Richard J.; Garner, Craig C. (2015-01-01). "Piccolo Directs Activity Dependent F-Actin Assembly from Presynaptic Active Zones via Daam1". PLOS ONE 10 (4): e0120093. doi:10.1371/journal.pone.0120093. PMID 25897839. Bibcode: 2015PLoSO..1020093W.
- ↑ Wang, X.; Kibschull, M.; Laue, M. M.; Lichte, B.; Petrasch-Parwez, E.; Kilimann, M. W. (1999-10-04). "Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with Rim and Bassoon and binds profilin". The Journal of Cell Biology 147 (1): 151–162. doi:10.1083/jcb.147.1.151. PMID 10508862.
- ↑ "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. Mar 2012. doi:10.1073/pnas.1121343109. PMID 22343534. Bibcode: 2012PNAS..109.3879L.
- ↑ Ahmed, Mustafa Y.; Chioza, Barry A.; Rajab, Anna; Schmitz-Abe, Klaus; Al-Khayat, Aisha; Al-Turki, Saeed; Baple, Emma L.; Patton, Michael A. et al. (2015-04-28). "Loss of PCLO function underlies pontocerebellar hypoplasia type III" (in en). Neurology 84 (17): 1745–1750. doi:10.1212/WNL.0000000000001523. PMID 25832664.
Further reading
- Sanger Centre, The; Washington University Genome Sequencing Cente, The (Nov 1998). "Toward a complete human genome sequence". Genome Research 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- "Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with Rim and Bassoon and binds profilin". The Journal of Cell Biology 147 (1): 151–62. Oct 1999. doi:10.1083/jcb.147.1.151. PMID 10508862.
- "Piccolo, a presynaptic zinc finger protein structurally related to bassoon". Neuron 25 (1): 203–14. Jan 2000. doi:10.1016/S0896-6273(00)80883-1. PMID 10707984.
- "Gene structure and genetic localization of the PCLO gene encoding the presynaptic active zone protein Piccolo". International Journal of Developmental Neuroscience 20 (3–5): 161–71. 2002. doi:10.1016/S0736-5748(02)00046-1. PMID 12175852.
- "Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release". The Journal of Cell Biology 164 (2): 301–11. Jan 2004. doi:10.1083/jcb.200307101. PMID 14734538.
External links
- Overview of all the structural information available in the PDB for UniProt: Q9Y6V0 (Protein piccolo) at the PDBe-KB.
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