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    Pclo piccolo (presynaptic cytomatrix protein) [ Mus musculus (house mouse) ]

    Gene ID: 26875, updated on 27-Nov-2024

    Summary

    Official Symbol
    Pcloprovided by MGI
    Official Full Name
    piccolo (presynaptic cytomatrix protein)provided by MGI
    Primary source
    MGI:MGI:1349390
    See related
    Ensembl:ENSMUSG00000061601 AllianceGenome:MGI:1349390
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Acz; Pico
    Summary
    Enables profilin binding activity. A structural constituent of presynaptic active zone. Involved in presynaptic actin cytoskeleton organization; protein localization to synapse; and synaptic vesicle clustering. Acts upstream of or within cytoskeleton organization; insulin secretion; and regulation of exocytosis. Located in postsynaptic density. Is expressed in nervous system and sensory organ. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 3. Orthologous to human PCLO (piccolo presynaptic cytomatrix protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 10.3), cortex adult (RPKM 8.0) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Pclo in Genome Data Viewer
    Location:
    5 A1- A2; 5 6.27 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (14564924..14913479)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (14514906..14863465)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene DND microRNA-mediated repression inhibitor 1, pseudogene Neighboring gene STARR-seq mESC enhancer starr_12460 Neighboring gene STARR-seq mESC enhancer starr_12461 Neighboring gene STARR-seq mESC enhancer starr_12466 Neighboring gene STARR-seq mESC enhancer starr_12467 Neighboring gene sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E Neighboring gene STARR-seq mESC enhancer starr_12468 Neighboring gene STARR-seq mESC enhancer starr_12469 Neighboring gene STARR-seq mESC enhancer starr_12470 Neighboring gene STARR-seq mESC enhancer starr_12471 Neighboring gene STARR-seq mESC enhancer starr_12472 Neighboring gene STARR-seq mESC enhancer starr_12473 Neighboring gene STARR-seq mESC enhancer starr_12474 Neighboring gene STARR-seq mESC enhancer starr_12476 Neighboring gene STARR-seq mESC enhancer starr_12477 Neighboring gene STARR-seq mESC enhancer starr_12478 Neighboring gene arginine/serine-rich coiled-coil 2 pseudogene Neighboring gene STARR-seq mESC enhancer starr_12479 Neighboring gene STARR-seq mESC enhancer starr_12480 Neighboring gene spermatogenesis associated glutamate (E)-rich protein 4E1 Neighboring gene predicted gene, 52805 Neighboring gene predicted gene 9758

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0559

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium-dependent phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium-dependent phospholipid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables profilin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables structural constituent of presynaptic active zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables structural constituent of presynaptic active zone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transcription corepressor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within insulin secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in maintenance of presynaptic active zone structure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in modulation of excitatory postsynaptic potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of synaptic vesicle recycling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in presynaptic actin cytoskeleton organization EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in presynaptic actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in presynaptic actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in presynaptic active zone assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in presynaptic active zone assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to synapse IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of endosome size ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of exocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synapse organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in synaptic vesicle clustering IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synaptic vesicle clustering IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic vesicle targeting NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi-associated vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cone cell pedicle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoskeleton of presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton of presynaptic active zone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in inhibitory synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuromuscular junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in parallel fiber to Purkinje cell synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in presynaptic active zone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynaptic active zone ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in presynaptic active zone cytoplasmic component ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ribbon synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in rod spherule ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in terminal bouton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    protein piccolo
    Names
    aczonin
    brain-derived HLMN protein
    multidomain presynaptic cytomatrix protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001110796.2NP_001104266.1  protein piccolo isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC125043, AC125533, AC144625
      Consensus CDS
      CCDS59667.1
      UniProtKB/Swiss-Prot
      Q9QYX7
      Related
      ENSMUSP00000138419.2, ENSMUST00000182407.8
      Conserved Domains (8) summary
      cd04031
      Location:46224754
      C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins
      cd00992
      Location:44244515
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd15774
      Location:530591
      FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo
      pfam02389
      Location:401513
      Cornifin; Cornifin (SPRR) family
      pfam03957
      Location:265375
      Jun; Jun-like transcription factor
      pfam05715
      Location:9971053
      zf-piccolo; Piccolo Zn-finger
      pfam14179
      Location:415475
      YppG; YppG-like protein
      pfam15822
      Location:225449
      MISS; MAPK-interacting and spindle-stabilizing protein-like
    2. NM_011995.4NP_036125.4  protein piccolo isoform 1

      See identical proteins and their annotated locations for NP_036125.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC125043, AC125533, AC144480, AC144625, AI852499
      Consensus CDS
      CCDS51415.1
      UniProtKB/Swiss-Prot
      E9QK94, Q8CF91, Q8CF92, Q9QYX6, Q9QYX7, Q9QZJ0
      Related
      ENSMUSP00000030691.10, ENSMUST00000030691.17
      Conserved Domains (9) summary
      cd04031
      Location:46224754
      C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins
      cd00992
      Location:44244515
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd15774
      Location:530591
      FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo
      pfam00168
      Location:49515060
      C2; C2 domain
      pfam02389
      Location:401513
      Cornifin; Cornifin (SPRR) family
      pfam03957
      Location:265375
      Jun; Jun-like transcription factor
      pfam05715
      Location:9971053
      zf-piccolo; Piccolo Zn-finger
      pfam14179
      Location:415475
      YppG; YppG-like protein
      pfam15822
      Location:225449
      MISS; MAPK-interacting and spindle-stabilizing protein-like

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      14564924..14913479
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503582.4XP_006503645.2  protein piccolo isoform X1

      Conserved Domains (10) summary
      PTZ00121
      Location:11081607
      PTZ00121; MAEBL; Provisional
      cd04031
      Location:46534785
      C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins
      PHA03247
      Location:63536
      PHA03247; large tegument protein UL36; Provisional
      PRK01741
      Location:37893931
      PRK01741; cell division protein ZipA; Provisional
      PRK10263
      Location:33693911
      PRK10263; DNA translocase FtsK; Provisional
      PRK14971
      Location:9031007
      PRK14971; DNA polymerase III subunit gamma/tau
      cd00992
      Location:44554546
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd15774
      Location:548609
      FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo
      pfam00168
      Location:49825091
      C2; C2 domain
      pfam05715
      Location:10151071
      zf-piccolo; Piccolo Zn-finger
    2. XM_036165145.1XP_036021038.1  protein piccolo isoform X2

      Conserved Domains (10) summary
      PTZ00121
      Location:11081607
      PTZ00121; MAEBL; Provisional
      cd04031
      Location:46534776
      C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins
      PHA03247
      Location:63536
      PHA03247; large tegument protein UL36; Provisional
      PRK01741
      Location:37893931
      PRK01741; cell division protein ZipA; Provisional
      PRK10263
      Location:33693911
      PRK10263; DNA translocase FtsK; Provisional
      PRK14971
      Location:9031007
      PRK14971; DNA polymerase III subunit gamma/tau
      cd00992
      Location:44554546
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd15774
      Location:548609
      FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo
      pfam00168
      Location:49735082
      C2; C2 domain
      pfam05715
      Location:10131071
      zf-piccolo; Piccolo Zn-finger
    3. XM_006503584.4XP_006503647.2  protein piccolo isoform X4

      Conserved Domains (10) summary
      PTZ00121
      Location:11081607
      PTZ00121; MAEBL; Provisional
      cd04031
      Location:44944626
      C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins
      PHA03247
      Location:63536
      PHA03247; large tegument protein UL36; Provisional
      PRK01741
      Location:36303772
      PRK01741; cell division protein ZipA; Provisional
      PRK14971
      Location:9031007
      PRK14971; DNA polymerase III subunit gamma/tau
      cd00992
      Location:42964387
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd15774
      Location:548609
      FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo
      pfam07218
      Location:33853611
      RAP1; Rhoptry-associated protein 1 (RAP-1)
      pfam00168
      Location:48234932
      C2; C2 domain
      pfam05715
      Location:10151071
      zf-piccolo; Piccolo Zn-finger
    4. XM_006503583.4XP_006503646.2  protein piccolo isoform X3

      Related
      ENSMUST00000182426.3
      Conserved Domains (10) summary
      PTZ00121
      Location:11081607
      PTZ00121; MAEBL; Provisional
      cd04031
      Location:46404772
      C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins
      PHA03247
      Location:63536
      PHA03247; large tegument protein UL36; Provisional
      PRK01741
      Location:37893931
      PRK01741; cell division protein ZipA; Provisional
      PRK10263
      Location:33693911
      PRK10263; DNA translocase FtsK; Provisional
      PRK14971
      Location:9031007
      PRK14971; DNA polymerase III subunit gamma/tau
      cd00992
      Location:44424533
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd15774
      Location:548609
      FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo
      pfam00168
      Location:49695078
      C2; C2 domain
      pfam05715
      Location:10151071
      zf-piccolo; Piccolo Zn-finger
    5. XM_036165146.1XP_036021039.1  protein piccolo isoform X5

      Conserved Domains (9) summary
      PTZ00121
      Location:11081607
      PTZ00121; MAEBL; Provisional
      cd04031
      Location:46404763
      C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins
      PHA03247
      Location:63536
      PHA03247; large tegument protein UL36; Provisional
      PRK01741
      Location:37893931
      PRK01741; cell division protein ZipA; Provisional
      PRK10263
      Location:33693911
      PRK10263; DNA translocase FtsK; Provisional
      PRK14971
      Location:9031007
      PRK14971; DNA polymerase III subunit gamma/tau
      cd00992
      Location:44424533
      PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
      cd15774
      Location:548609
      FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo
      pfam05715
      Location:10131071
      zf-piccolo; Piccolo Zn-finger

    RNA

    1. XR_003955647.2 RNA Sequence

    2. XR_004942517.1 RNA Sequence

    3. XR_003955648.2 RNA Sequence

    4. XR_004942519.1 RNA Sequence

    5. XR_003955650.2 RNA Sequence

    6. XR_004942518.1 RNA Sequence

    7. XR_003955649.2 RNA Sequence