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FLASH GENE
Symbol PCLO contributors: mct/npt/pgu - updated : 07-03-2015
HGNC name piccolo (presynaptic cytomatrix protein)
HGNC id 13406
Corresponding disease
CLAM pontocerebellar atrophy with progressive microcephaly
Location 7q21.11      Physical location : 82.383.320 - 82.792.197
Synonym name
  • aczonin
  • piccolo
  • Synonym symbol(s) KIAA0559, ACZ, DKFZp779G1236
    DNA
    TYPE functioning gene
    STRUCTURE 408.88 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC392065 7 similar to beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase; Glucosaminyl (N-acetyl) transferase 1, core 2; beta-1,6-N-acetylglucosaminyltransferase PTPN12 7q11.23 protein tyrosine phosphatase, non-receptor type 12 LOC389528 7 hypothetical gene supported by AF290475; BC037783 FLJ42526 7q21.11 FLJ42526 protein C7orf35 7q21.11 chromosome 7 open reading frame 35 PHTF2 7q11.23-q21 putative homeodomain transcription factor 2 AIP1 7q11.2 putative homeodomain transcription factor 2 LOC389529 7 LOC389529 LOC392066 7 similar to 60S ribosomal protein L10 (QM protein homolog) GNAI1 7q21.3-q22.1 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 LOC346562 CD36 7q11.2 CD36 antigen (collagen type I receptor, thrombospondin receptor) SEMA3C 7q21-q31 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C HGF 7q21.1 hepatocyte growth factor (hepatopoietin A; scatter factor) CACNA2D1 7q21.3-q22.1 calcium channel, voltage-dependent, alpha 2/delta subunit 1 PCLO 7q11.23-q21.3 piccolo (presynaptic cytomatrix protein) LOC389530 7 similar to [Segment 1 of 2] Piccolo protein (Aczonin) SEMA3E 7q21.11-q31.33 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E SEMA3A 2q37-qter sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A HMG17P1 7q11-q21 high-mobility group (nonhistone chromosomal) protein 17 pseudogene 1 LOC285984 7q21.12 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) SEMA3D 7q21.12 sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D LOC392067 7 similar to dynein, cytoplasmic, light peptide GRM3 7q21.1-q21.2 glutamate receptor, metabotropic 3 FLJ31340 7q21.13 hypothetical protein FLJ31340 DMTF1 7q21.1 cyclin D binding myb-like transcription factor 1 C7orf23 7q21.1-q21.2 chromosome 7 open reading frame 23 TP53AP1 7q21.1 TP53 activated protein 1 CROT 7q21.1 carnitine O-octanoyltransferase ABCB4 7q21.1 ATP-binding cassette, sub-family B (MDR/TAP), member 4 ABCB1 7q21.1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 RPIB9 7q21.13 Rap2-binding protein 9 MCFP 7q21.13 mitochondrial carrier family protein ASK 7q21.3 mitochondrial carrier family protein ADAM22 7q21.1 a disintegrin and metalloproteinase domain 22
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 20288 560.6 5142 - 2008 18647954
    20 - 17095 538 4935 - 2008 18647954
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal glutamine-rich sequence,
  • two pairs of Cys(4) zinc fingers, apolyproline tract
  • a PDZ domain
  • a C-terminal PDZ-domain, and two C-terminal C2-domains (referred to as the C2A- and C2B-domain) that are absent from bassoon
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY chaperone/stress , secretory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytoskeleton
    text presynaptic plasma membrane, synaptic junction
    basic FUNCTION
  • synaptic vesicle trafficking
  • core active zone protein, putative anchoring synaptic vesicles to the presynaptic plasma membrane
  • involved in the molecular organization of synaptic active zones
  • presynaptic cytomatrix protein that functions as a Ca(2+) sensor that may be involved in insulin secretion and/or insulin action
  • piccolo, RIMS2, RIMS3, are involved in the neurobiology of schizophrenia
  • with BSN play a redundant role in synaptic vesicle clustering in nerve terminals without directly participating in neurotransmitter release
  • function as tethering proteins that mediate efficient synaptic vesicle clustering, but that neither piccolo nor bassoon has a direct role in either synapse formation or neurotransmitter release
  • multidomain protein of the active zone cytomatrix, is a key regulator of presynaptic F-actin assembly
  • regulates neurotransmitter release by facilitating activity-dependent F-actin assembly and the dynamic recruitment of key signaling molecules into presynaptic boutons
  • novel role for BSN and PCLO as critical regulators of presynaptic ubiquitination and proteostasis
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text cytoskeleton organization, vesicular trafficking
    PATHWAY
    metabolism
    signaling
    a component
  • major component of the presynaptic active zones of neurons in the central nervous system, and component of neuromuscular junction synapses in the peripheral nervous system
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • profilin binding
  • dual prenylated RAB3A and VAMP2/synaptobrevin receptor PRA1
  • CTBP1 is targeted and/or anchored to presynapses by direct interaction with the active zone scaffolding proteins BSN and PCLO
  • interact with the C-terminal PBH 9/10 domains of PCLO and BSN via its own N-terminal Spectrin repeats, a domain that is also critical for its localization to the cytoskeletal matrix assembled at the presynaptic active zone (AZ) (CAZ)
  • cell & other
  • Ca2+ dependent phospholipid binding
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CLAM
    Susceptibility
  • to type 2 diabetes (minor role)
  • to depressive disorders
  • to bipolar disorder
  • Variant & Polymorphism SNP
  • association between SNP rs2522833 and depressive disorders
  • one SNP (rs13438494), in an intron of the piccolo (PCLO) gene, was significantly associated with bipolar disorder
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS