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

Gene ID: 27445, updated on 12-Aug-2018

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; Vega:OTTHUMG00000154853
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

Genomic context

See PCLO in Genome Data Viewer
Location:
7q21.11
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (82754005..83164161, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (82383321..82792197, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 5 Neighboring gene uncharacterized LOC105375376 Neighboring gene RNA, 5S ribosomal pseudogene 235 Neighboring gene uncharacterized LOC105375377 Neighboring gene semaphorin 3E 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

Description
Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.
NHGRI GWA 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 BioSystems

  • Insulin secretion, organism-specific biosystem (from KEGG)
    Insulin secretion, organism-specific biosystemPancreatic beta cells are specialised endocrine cells that continuously sense the levels of blood sugar and other fuels and, in response, secrete insulin to maintain normal fuel homeostasis. Glucose-...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp779G1236

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium-dependent phospholipid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
profilin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
structural constituent of presynaptic active zone IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cAMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
insulin secretion IEA
Inferred from Electronic Annotation
more info
 
maintenance of presynaptic active zone structure IEA
Inferred from Electronic Annotation
more info
 
presynapse to nucleus signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein localization to synapse IEA
Inferred from Electronic Annotation
more info
 
regulation of exocytosis IEA
Inferred from Electronic Annotation
more info
 
synapse assembly IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle clustering IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle exocytosis NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton NAS
Non-traceable Author Statement
more info
PubMed 
cytoskeleton of presynaptic active zone TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome HDA PubMed 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
synapse ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
protein piccolo
Names
aczonin

NCBI Reference Sequences (RefSeq)

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
    5001..413877
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014510.2NP_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, AC004886, AC004903, AC093461, BG913494, DN990884
    Consensus CDS
    CCDS47631.1
    UniProtKB/Swiss-Prot
    Q9Y6V0
    Related
    ENSP00000388393.2, OTTHUMP00000225877, ENST00000423517.6, OTTHUMT00000377249
    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_033026.5NP_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
    Q9Y6V0
    Related
    ENSP00000334319.8, OTTHUMP00000206818, ENST00000333891.13, OTTHUMT00000337368
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    82754005..83164161 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012006.2XP_016867495.1  protein piccolo isoform X1

  2. XM_017012007.1XP_016867496.1  protein piccolo isoform X2

RNA

  1. XR_001744643.2 RNA Sequence

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