PCLO

Protein piccolo is a protein that in humans is encoded by the PCLO gene.[5][6][7]

PCLO
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPCLO, ACZ, PCH3, piccolo presynaptic cytomatrix protein
External IDsOMIM: 604918 MGI: 1349390 HomoloGene: 69111 GeneCards: PCLO
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q21.11Start82,754,012 bp[1]
End83,162,930 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

27445

26875

Ensembl

ENSG00000186472

ENSMUSG00000061601

UniProt

Q9Y6V0

Q9QYX7

RefSeq (mRNA)

NM_033026
NM_014510

NM_001110796
NM_011995

RefSeq (protein)

NP_055325
NP_149015

NP_001104266
NP_036125

Location (UCSC)Chr 7: 82.75 – 83.16 MbChr 5: 14.51 – 14.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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][7]

Interactions

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

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]

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References
  1. GRCh38: Ensembl release 89: ENSG00000186472 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000061601 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. "Entrez Gene: PCLO piccolo (presynaptic cytomatrix protein)".
  8. 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.
  9. 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.
  10. Fenster, S. D.; Chung, W. J.; Zhai, R.; Cases-Langhoff, C.; Voss, B.; Garner, A. M.; Kaempf, U.; Kindler, S.; Gundelfinger, E. D. (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.
  11. Terry-Lorenzo, Ryan T.; Torres, Viviana I.; Wagh, Dhananjay; Galaz, Jose; Swanson, Selene K.; Florens, Laurence; Washburn, Michael P.; Waites, Clarissa L.; Gundelfinger, Eckart D. (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. PMC 5132261. PMID 27907191.
  12. 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. PMC 4405365. PMID 25897839.
  13. 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. PMC 2164979. PMID 10508862.
  14. 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.
  15. Ahmed, Mustafa Y.; Chioza, Barry A.; Rajab, Anna; Schmitz-Abe, Klaus; Al-Khayat, Aisha; Al-Turki, Saeed; Baple, Emma L.; Patton, Michael A.; Al-Memar, Ali Y. (2015-04-28). "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
  • Overview of all the structural information available in the PDB for UniProt: Q9Y6V0 (Protein piccolo) at the PDBe-KB.
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