PCLO

Piccolo presynaptic cytomatrix protein
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1UJD​
Identifiers
Symbols	PCLO ; ACZ; PCH3
External IDs	OMIM: 604918 MGI: 1349390 HomoloGene: 69111 GeneCards: PCLO Gene
Gene ontology Molecular function • calcium ion binding • profilin binding • calcium-dependent phospholipid binding Cellular component • cytoskeleton • postsynaptic density • membrane • cell junction • synapse • cytoskeleton of presynaptic active zone • extracellular exosome Biological process • cytoskeleton organization • synapse assembly • synaptic vesicle exocytosis • regulation of exocytosis • cAMP-mediated signaling • insulin secretion Sources: Amigo / QuickGO
RNA expression pattern
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: 82.75 – 83.16 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]

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

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

1. Cases-Langhoff C, Voss B, Garner AM, Appeltauer U, Takei K, Kindler S, Veh RW, De Camilli P, Gundelfinger ED, Garner CC (Mar 1996). "Piccolo, a novel 420 kDa protein associated with the presynaptic cytomatrix". European Journal of Cell Biology 69 (3): 214–23. PMID 8900486.
2. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Feb 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): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.
3. "Entrez Gene: PCLO piccolo (presynaptic cytomatrix protein)".
4. Kim S, Ko J, Shin H, Lee JR, Lim C, Han JH, Altrock WD, Garner CC, Gundelfinger ED, Premont RT, Kaang BK, Kim E (Feb 2003). "The GIT family of proteins forms multimers and associates with the presynaptic cytomatrix protein Piccolo". The Journal of Biological Chemistry 278 (8): 6291–300. doi:10.1074/jbc.M212287200. 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 (Mar 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 Research 8 (11): 1097–108. Nov 1998. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Wang X, Kibschull M, Laue MM, Lichte B, Petrasch-Parwez E, Kilimann MW (Oct 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): 151–62. doi:10.1083/jcb.147.1.151. PMC 2164979. PMID 10508862.
• Fenster SD, Chung WJ, Zhai R, Cases-Langhoff C, Voss B, Garner AM, Kaempf U, Kindler S, Gundelfinger ED, Garner CC (Jan 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". International Journal of Developmental Neuroscience 20 (3-5): 161–71. doi:10.1016/S0736-5748(02)00046-1. PMID 12175852.
• Takao-Rikitsu E, Mochida S, Inoue E, Deguchi-Tawarada M, Inoue M, Ohtsuka T, Takai Y (Jan 2004). "Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release". The Journal of Cell Biology 164 (2): 301–11. doi:10.1083/jcb.200307101. PMC 2172332. PMID 14734538.