PCLO

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PCLO
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PCLO, ACZ, PCH3, piccolo presynaptic cytomatrix protein
External IDs MGI: 1349390 HomoloGene: 69111 GeneCards: 27445
Genetically Related Diseases
Disease Name References
major depressive disorder
RNA expression pattern
PBB GE PCLO 210650 s at tn.png

PBB GE PCLO 213558 at tn.png

PBB GE PCLO gnf1h01744 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_033026
NM_014510

NM_001110796
NM_011995

RefSeq (protein)

NP_055325.2
NP_149015.2

NP_001104266.1
NP_036125.4

Location (UCSC) Chr 7: 82.75 – 83.16 Mb Chr 5: 14.51 – 14.86 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Protein piccolo is a protein that in humans is encoded by the PCLO gene.[1][2][3]

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][3]

Interactions[edit]

PCLO has been shown to interact with GIT1.[4]

Clinical relevance[edit]

Recurrent mutations in this gene have been associated to cases of diffuse large B-cell lymphoma.[5]

References[edit]

  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. ^ a b "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[edit]