PCLO
| PCLO | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | PCLO, ACZ, PCH3, piccolo presynaptic cytomatrix protein | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604918; MGI: 1349390; HomoloGene: 69111; GeneCards: PCLO; OMA:PCLO - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Protein piccolo is a protein that in humans is encoded by the PCLO gene.[5][6][7]
Function
[edit]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][7]
Interactions
[edit]The protein product of PCLO called Piccolo has been shown to interact with number of proteins including GIT1,[8] the F-actin-binding protein Abp1,[9] PRA1,[10] TRIO,[11] DAAM1,[12] and Profilin.[13]
Clinical relevance
[edit]Recurrent mutations in this gene have been associated to cases of diffuse large B-cell lymphoma.[14] 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).[15]
References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000186472 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000061601 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Cases-Langhoff C, Voss B, Garner AM, Appeltauer U, Takei K, Kindler S, et al. (March 1996). "Piccolo, a novel 420 kDa protein associated with the presynaptic cytomatrix". European Journal of Cell Biology. 69 (3): 214–223. PMID 8900486.
- ↑ Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, et al. (February 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 Research. 5 (1): 31–39. CiteSeerX 10.1.1.610.1181. doi:10.1093/dnares/5.1.31. PMID 9628581.
- 1 2 "Entrez Gene: PCLO piccolo (presynaptic cytomatrix protein)".
- ↑ Kim S, Ko J, Shin H, Lee JR, Lim C, Han JH, et al. (February 2003). "The GIT family of proteins forms multimers and associates with the presynaptic cytomatrix protein Piccolo". The Journal of Biological Chemistry. 278 (8): 6291–6300. doi:10.1074/jbc.M212287200. PMID 12473661.
- ↑ Fenster SD, Kessels MM, Qualmann B, Chung WJ, Nash J, Gundelfinger ED, et al. (May 2003). "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 SD, Chung WJ, Zhai R, Cases-Langhoff C, Voss B, Garner AM, et al. (January 2000). "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. S2CID 10177138.
- ↑ Terry-Lorenzo RT, Torres VI, Wagh D, Galaz J, Swanson SK, Florens L, et al. (2016). "Trio, a Rho Family GEF, Interacts with the Presynaptic Active Zone Proteins Piccolo and Bassoon". PLOS ONE. 11 (12) e0167535. Bibcode:2016PLoSO..1167535T. doi:10.1371/journal.pone.0167535. PMC 5132261. PMID 27907191.
- ↑ Wagh D, Terry-Lorenzo R, Waites CL, Leal-Ortiz SA, Maas C, Reimer RJ, et al. (2015). "Piccolo Directs Activity Dependent F-Actin Assembly from Presynaptic Active Zones via Daam1". PLOS ONE. 10 (4) e0120093. Bibcode:2015PLoSO..1020093W. doi:10.1371/journal.pone.0120093. PMC 4405365. PMID 25897839.
- ↑ Wang X, Kibschull M, Laue MM, Lichte B, Petrasch-Parwez E, Kilimann MW (October 1999). "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. PMC 2164979. PMID 10508862.
- ↑ Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, et al. (March 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): 3879–3884. Bibcode:2012PNAS..109.3879L. doi:10.1073/pnas.1121343109. PMC 3309757. PMID 22343534.
- ↑ Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, et al. (April 2015). "Loss of PCLO function underlies pontocerebellar hypoplasia type III". Neurology. 84 (17): 1745–1750. doi:10.1212/WNL.0000000000001523. PMC 4424132. PMID 25832664.
Further reading
[edit]- Sanger Centre T, Washington University Genome Sequencing Cente T (November 1998). "Toward a complete human genome sequence". Genome Research. 8 (11): 1097–1108. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Fenster SD, Garner CC (2002). "Gene structure and genetic localization of the PCLO gene encoding the presynaptic active zone protein Piccolo". International Journal of Developmental Neuroscience. 20 (3–5): 161–171. doi:10.1016/S0736-5748(02)00046-1. PMID 12175852. S2CID 21515091.
- Takao-Rikitsu E, Mochida S, Inoue E, Deguchi-Tawarada M, Inoue M, Ohtsuka T, et al. (January 2004). "Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release". The Journal of Cell Biology. 164 (2): 301–311. doi:10.1083/jcb.200307101. PMC 2172332. PMID 14734538.
External links
[edit]- Overview of all the structural information available in the PDB for UniProt: Q9Y6V0 (Protein piccolo) at the PDBe-KB.
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