PCLO
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Protein piccolo is a protein that in humans is encoded by the PCLO gene.[5][6][7]
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]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000186472 – Ensembl, May 2017
- ^ a b c 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.
- PMID 8900486.
- PMID 9628581.
- ^ a b "Entrez Gene: PCLO piccolo (presynaptic cytomatrix protein)".
- PMID 12473661.
- PMID 12654920.
- S2CID 10177138.
- PMID 27907191.
- PMID 25897839.
- PMID 10508862.
- PMID 22343534.
- 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. 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. 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. S2CID 10177138.
- 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. S2CID 21515091.
- 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. 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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