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Aliases for PCLO Gene

Aliases for PCLO Gene

  • Piccolo Presynaptic Cytomatrix Protein 2 3
  • Aczonin 2 3 4
  • Piccolo (Presynaptic Cytomatrix Protein) 2 3
  • ACZ 3 4
  • Protein Piccolo 3
  • KIAA0559 4

External Ids for PCLO Gene

Previous GeneCards Identifiers for PCLO Gene

  • GC07M080985
  • GC07M082048
  • GC07M082061
  • GC07M081999
  • GC07M082094
  • GC07M082266
  • GC07M082383
  • GC07M076984

Summaries for PCLO Gene

Entrez Gene Summary for PCLO Gene

  • 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]

GeneCards Summary for PCLO Gene

PCLO (Piccolo Presynaptic Cytomatrix Protein) is a Protein Coding gene. Diseases associated with PCLO include bipolar disorder. Among its related pathways are Insulin secretion. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is BSN.

UniProtKB/Swiss-Prot for PCLO Gene

  • May act as a scaffolding protein involved in the organization of synaptic active zones and in synaptic vesicle trafficking.

Gene Wiki entry for PCLO Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCLO Gene

Genomics for PCLO Gene

Regulatory Elements for PCLO Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PCLO Gene

Start:
82,754,005 bp from pter
End:
83,162,930 bp from pter
Size:
408,926 bases
Orientation:
Minus strand

Genomic View for PCLO Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCLO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCLO Gene

Proteins for PCLO Gene

  • Protein details for PCLO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6V0-PCLO_HUMAN
    Recommended name:
    Protein piccolo
    Protein Accession:
    Q9Y6V0
    Secondary Accessions:
    • A4D1A7
    • A6NNX9
    • O43373
    • O60305
    • Q08E72
    • Q9BVC8
    • Q9UIV2
    • Q9Y6U9

    Protein attributes for PCLO Gene

    Size:
    5065 amino acids
    Molecular mass:
    553277 Da
    Quaternary structure:
    • Interacts with RABAC1/PRA1, RIMS2 and profilin.
    SequenceCaution:
    • Sequence=AAB97937.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAD21789.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCLO Gene

    Alternative splice isoforms for PCLO Gene

neXtProt entry for PCLO Gene

Proteomics data for PCLO Gene at MOPED

Post-translational modifications for PCLO Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCLO Gene

No data available for DME Specific Peptides for PCLO Gene

Domains for PCLO Gene

Suggested Antigen Peptide Sequences for PCLO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6V0

UniProtKB/Swiss-Prot:

PCLO_HUMAN :
  • Q9Y6V0
Domain:
  • C2 domain 1 is involved in binding calcium and phospholipids. Calcium binds with low affinity but with high specificity and induces a large conformational change.
  • Contains 2 C2 domains.
  • Contains 1 PDZ (DHR) domain.
genes like me logo Genes that share domains with PCLO: view

No data available for Gene Families for PCLO Gene

Function for PCLO Gene

Molecular function for PCLO Gene

UniProtKB/Swiss-Prot Function: May act as a scaffolding protein involved in the organization of synaptic active zones and in synaptic vesicle trafficking.

Gene Ontology (GO) - Molecular Function for PCLO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity --
GO:0005509 calcium ion binding ISS --
GO:0005515 protein binding --
GO:0005522 profilin binding ISS --
GO:0005544 calcium-dependent phospholipid binding ISS --
genes like me logo Genes that share ontologies with PCLO: view
genes like me logo Genes that share phenotypes with PCLO: view

Animal Models for PCLO Gene

MGI Knock Outs for PCLO:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCLO

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for PCLO Gene

Localization for PCLO Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCLO Gene

Cell junction, synapse. Note=Concentrated at the presynaptic side of synaptic junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCLO Gene COMPARTMENTS Subcellular localization image for PCLO gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PCLO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005856 cytoskeleton NAS 10508862
GO:0008021 synaptic vesicle --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with PCLO: view

Pathways for PCLO Gene

SuperPathways for PCLO Gene

Superpath Contained pathways
1 Insulin secretion
genes like me logo Genes that share pathways with PCLO: view

Pathways by source for PCLO Gene

1 KEGG pathway for PCLO Gene

Gene Ontology (GO) - Biological Process for PCLO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization ISS --
GO:0007416 synapse assembly IEA --
GO:0008152 metabolic process --
GO:0016079 synaptic vesicle exocytosis NAS 10508862
GO:0017157 regulation of exocytosis IEA --
genes like me logo Genes that share ontologies with PCLO: view

Compounds for PCLO Gene

(1) HMDB Compounds for PCLO Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with PCLO: view

Transcripts for PCLO Gene

Unigene Clusters for PCLO Gene

Piccolo presynaptic cytomatrix protein:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCLO

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PCLO

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCLO Gene

No ASD Table

Relevant External Links for PCLO Gene

GeneLoc Exon Structure for
PCLO
ECgene alternative splicing isoforms for
PCLO

Expression for PCLO Gene

mRNA expression in normal human tissues for PCLO Gene

mRNA differential expression in normal tissues according to GTEx for PCLO Gene

This gene is overexpressed in Brain - Cerebellum (6.6), Brain - Cerebellar Hemisphere (6.3), and Brain - Nucleus accumbens (basal ganglia) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PCLO Gene

SOURCE GeneReport for Unigene cluster for PCLO Gene Hs.12376

genes like me logo Genes that share expressions with PCLO: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PCLO Gene

Orthologs for PCLO Gene

This gene was present in the common ancestor of animals.

Orthologs for PCLO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCLO 35
  • 99.57 (n)
  • 99.46 (a)
PCLO 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PCLO 35
  • 88.47 (n)
  • 87.57 (a)
PCLO 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCLO 35
  • 82.74 (n)
  • 76.95 (a)
PCLO 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pclo 35
  • 84.46 (n)
  • 84.73 (a)
Pclo 16
Pclo 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCLO 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCLO 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pclo 35
  • 84.19 (n)
  • 84.98 (a)
chicken
(Gallus gallus)
Aves PCLO 35
  • 71.34 (n)
  • 68.83 (a)
PCLO 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCLO 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pclo 35
  • 66.36 (n)
  • 63.91 (a)
zebrafish
(Danio rerio)
Actinopterygii pcloa 36
  • 49 (a)
OneToMany
pclob 36
  • 43 (a)
OneToMany
si:dkey-108d22.4 35
  • 60.73 (n)
  • 58.84 (a)
worm
(Caenorhabditis elegans)
Secernentea F45E4.3 36
  • 26 (a)
OneToMany
Species with no ortholog for PCLO:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCLO Gene

ENSEMBL:
Gene Tree for PCLO (if available)
TreeFam:
Gene Tree for PCLO (if available)

Paralogs for PCLO Gene

Paralogs for PCLO Gene

Selected SIMAP similar genes for PCLO Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PCLO: view

Variants for PCLO Gene

Sequence variations from dbSNP and Humsavar for PCLO Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs2877 -- 83,135,109(+) ATGGG(C/G)TGACT missense, reference
rs17518 -- 82,990,366(+) TTTCA(A/G)TATTT intron-variant
rs28156 -- 83,016,894(+) ACAGA(C/T)AGCAG intron-variant
rs41564 -- 82,990,191(+) AGGTA(C/T)ACAAG intron-variant
rs41565 -- 82,990,199(+) AAGAC(C/T)ATTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCLO Gene

Variant ID Type Subtype PubMed ID
esv2752186 CNV Gain 17911159
nsv524315 CNV Gain 19592680
nsv831046 CNV Gain 17160897
esv2677988 CNV Deletion 23128226
nsv5817 CNV Loss 18451855
nsv888589 CNV Loss 21882294
esv268993 CNV Insertion 20981092
esv273156 CNV Insertion 20981092
dgv7362n71 CNV Loss 21882294
dgv7363n71 CNV Loss 21882294
nsv818530 CNV Loss 17921354
esv269327 CNV Insertion 20981092
esv2641869 CNV Deletion 19546169
nsv824188 CNV Loss 20364138
esv269417 CNV Insertion 20981092
esv2675648 CNV Deletion 23128226
nsv519920 CNV Loss 19592680
nsv888594 CNV Loss 21882294
esv1579695 CNV Insertion 17803354
nsv442054 CNV CNV 18776908
nsv888595 CNV Loss 21882294
dgv7364n71 CNV Loss 21882294
nsv888599 CNV Loss 21882294
nsv464614 CNV Loss 19166990
esv1000997 CNV Deletion 20482838
nsv819983 CNV Gain 19587683
dgv7365n71 CNV Loss 21882294
nsv528771 CNV Loss 19592680

Relevant External Links for PCLO Gene

HapMap Linkage Disequilibrium report
PCLO
Human Gene Mutation Database (HGMD)
PCLO

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCLO Gene

Disorders for PCLO Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for PCLO Gene including...

Search for PCLO Gene in MalaCards »

Relevant External Links for PCLO

Genetic Association Database (GAD)
PCLO
Human Genome Epidemiology (HuGE) Navigator
PCLO
genes like me logo Genes that share disorders with PCLO: view

No data available for UniProtKB/Swiss-Prot for PCLO Gene

Publications for PCLO Gene

  1. Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. (PMID: 19065144) Sullivan P.F. … Penninx B.W. (Mol. Psychiatry 2009) 3 23 48
  2. 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. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4
  3. Aczonin, a 550-kd putative scaffolding protein of presynaptic active zones, shares homology regions with rim and bassoon and binds profilin. (PMID: 10508862) Wang X. … Kilimann M.W. (J. Cell Biol. 1999) 3 4
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for PCLO Gene

Sources for PCLO Gene

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