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    PCLO piccolo presynaptic cytomatrix protein [ Homo sapiens (human) ]

    Gene ID: 27445, updated on 9-Dec-2024

    Summary

    Official Symbol
    PCLOprovided by HGNC
    Official Full Name
    piccolo presynaptic cytomatrix proteinprovided by HGNC
    Primary source
    HGNC:HGNC:13406
    See related
    Ensembl:ENSG00000186472 MIM:604918; AllianceGenome:HGNC:13406
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACZ; PCH3
    Summary
    The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
    Expression
    Biased expression in brain (RPKM 4.9), adrenal (RPKM 1.4) and 9 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:
    7q21.11
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (82754012..83162884, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (84005231..84414103, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (82383328..82792200, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:82267896-82268556 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 5 Neighboring gene uncharacterized LOC105375376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26213 Neighboring gene NANOG hESC enhancer GRCh37_chr7:82389227-82389837 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:82434470-82435669 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:82445473-82446018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:82653064-82653634 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:82653635-82654203 Neighboring gene RNA, 5S ribosomal pseudogene 235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26214 Neighboring gene uncharacterized LOC105375377 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:82833944-82834566 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:82840511-82841088 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:82841089-82841665 Neighboring gene semaphorin 3E Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:83088278-83089221 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:83089222-83090164 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:83093938-83094880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26215 Neighboring gene uncharacterized LOC105375378

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Pontocerebellar hypoplasia type 3
    MedGen: C1842687 OMIM: 608027 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Genome-wide shRNA screening identifies PCLO, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp779G1236

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium-dependent phospholipid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables profilin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables structural constituent of presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of presynaptic active zone structure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in presynaptic actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in presynaptic active zone assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle clustering IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle exocytosis 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
     
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in cytoskeleton of presynaptic active zone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton of presynaptic active zone TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in glutamatergic synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    protein piccolo
    Names
    aczonin

    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.

    Genomic

    1. NG_047145.1 RefSeqGene

      Range
      4998..413870
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014510.3NP_055325.2  protein piccolo isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 3' terminal exons and differs at the 3' end compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB011131, AC004082, AC004886, AC004903, AC093461, BG913494, DN990884
      Consensus CDS
      CCDS47631.1
      UniProtKB/Swiss-Prot
      Q9Y6V0
      Related
      ENSP00000388393.2, ENST00000423517.6
      Conserved Domains (6) summary
      PHA03160
      Location:446560
      PHA03160; hypothetical protein; Provisional
      cd04031
      Location:46944826
      C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins
      cd00992
      Location:44964587
      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:587648
      FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo
      pfam05715
      Location:10571115
      zf-piccolo; Piccolo Zn-finger
      pfam06346
      Location:386531
      Drf_FH1; Formin Homology Region 1
    2. NM_033026.6NP_149015.2  protein piccolo isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004006, AC004082, AC004886, AC004903, AC080093, AC093461
      Consensus CDS
      CCDS47630.1
      UniProtKB/Swiss-Prot
      A4D1A7, A6NNX9, O43373, O60305, Q08E72, Q9BVC8, Q9UIV2, Q9Y6U9, Q9Y6V0
      Related
      ENSP00000334319.8, ENST00000333891.14
      Conserved Domains (10) summary
      cd04031
      Location:46944826
      C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins
      cd00992
      Location:44964587
      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:587648
      FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo
      pfam05715
      Location:10571115
      zf-piccolo; Piccolo Zn-finger
      cl14603
      Location:50055134
      C2; C2 domain
      cl25580
      Location:9471027
      OxoGdeHyase_C; 2-oxoglutarate dehydrogenase C-terminal
      cl26386
      Location:32411
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
      cl26464
      Location:308905
      Atrophin-1; Atrophin-1 family
      cl26511
      Location:11571700
      Neuromodulin_N; Gap junction protein N-terminal region
      cl28087
      Location:34603965
      FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      82754012..83162884 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012006.3XP_016867495.1  protein piccolo isoform X5

    2. XM_047420211.1XP_047276167.1  protein piccolo isoform X2

    3. XM_047420210.1XP_047276166.1  protein piccolo isoform X1

    4. XM_047420212.1XP_047276168.1  protein piccolo isoform X3

    5. XM_047420213.1XP_047276169.1  protein piccolo isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      84005231..84414103 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357925.1XP_054213900.1  protein piccolo isoform X5

    2. XM_054357921.1XP_054213896.1  protein piccolo isoform X2

    3. XM_054357920.1XP_054213895.1  protein piccolo isoform X1

    4. XM_054357922.1XP_054213897.1  protein piccolo isoform X3

    5. XM_054357923.1XP_054213898.1  protein piccolo isoform X4

    6. XM_054357924.1XP_054213899.1  protein piccolo isoform X6