PCLO

PCLO
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases PCLO, ACZ, PCH3, piccolo presynaptic cytomatrix protein
External IDs MGI: 1349390 HomoloGene: 69111 GeneCards: PCLO
Genetically Related Diseases
major depressive disorder[1]
RNA expression pattern




More reference expression data
Orthologs
Species Human Mouse
Entrez

27445

26875

Ensembl

ENSG00000186472

ENSMUSG00000061601

UniProt

Q9Y6V0

Q9QYX7

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 HumanView/Edit Mouse

Protein piccolo is a protein that in humans is encoded by the PCLO gene.[4][5][6]

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][6]

Interactions

PCLO has been shown to interact with GIT1.[7]

Clinical relevance

Recurrent mutations in this gene have been associated to cases of diffuse large B-cell lymphoma.[8]

References

  1. "Diseases that are genetically associated with PCLO view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. 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.
  5. 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.
  6. 1 2 "Entrez Gene: PCLO piccolo (presynaptic cytomatrix protein)".
  7. 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.
  8. 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 3309757Freely accessible. PMID 22343534.

Further reading

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