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Pclo Gene Detail
Summary
  • Symbol
    Pclo
  • Name
    piccolo (presynaptic cytomatrix protein)
  • Synonyms
    Acz, mKIAA0559, Pico
  • Feature Type
    protein coding gene
  • IDs
    MGI:1349390
    NCBI Gene: 26875
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:14564932-14913473 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 6.27 cM, cytoband A2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    11194 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1349390
 protein coding gene Chr5:14564924-14913479 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029297
 protein coding gene Chr5:11782998-12169272 (+)
A/J MGP_AJ_G0029261
 protein coding gene Chr5:11387379-11737888 (+)
AKR/J MGP_AKRJ_G0029211
 protein coding gene Chr5:12010707-12380963 (+)
BALB/cJ MGP_BALBcJ_G0029277
 protein coding gene Chr5:11852318-12207695 (+)
C3H/HeJ MGP_C3HHeJ_G0028998
 protein coding gene Chr5:11966227-12325987 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029729
 protein coding gene Chr5:12988201-13367895 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026970
 protein coding gene Chr5:9834271-10165955 (+)
CAST/EiJ MGP_CASTEiJ_G0028410
 protein coding gene Chr5:11738487-12129339 (+)
CBA/J MGP_CBAJ_G0028960
 protein coding gene Chr5:12871037-13271906 (+)
DBA/2J MGP_DBA2J_G0029113
 protein coding gene Chr5:11729351-12082548 (+)
FVB/NJ MGP_FVBNJ_G0029075
 protein coding gene Chr5:11187278-11531044 (+)
LP/J MGP_LPJ_G0029201
 protein coding gene Chr5:12144569-12539151 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029103
 protein coding gene Chr5:13709248-14211091 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029761
 protein coding gene Chr5:11619483-11990174 (+)
PWK/PhJ MGP_PWKPhJ_G0028132
 protein coding gene Chr5:11265689-11618197 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027965
 protein coding gene Chr5:11540226-11897912 (+)
WSB/EiJ MGP_WSBEiJ_G0028490
 protein coding gene Chr5:11606981-11973932 (+)



Homology
more
  • Human Ortholog
    PCLO, piccolo presynaptic cytomatrix protein
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PCLO, piccolo presynaptic cytomatrix protein
  • Synonyms
    ACZ, PCH3
  • Links
    NCBI Gene ID: 27445
    neXtProt AC: NX_Q9Y6V0
    UniProt: Q9Y6V0

  • Chr Location
    7q21.11; chr7:82754012-83162930 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PCLO associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 5 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for one deletion of Pclo are viable and fertile, and display no overt abnormal phenotype. Mice homozygous for another knock-out allele exhibit some premature lethality, decreased body size, and abnormal synaptic vesicle number.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    60
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    833
  • Tissues
    40
  • cDNA Data
    46
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000061601 Ensembl Gene Model | MGI Sequence Detail 348542 C57BL/6J ±  kb
    transcript ENSMUST00000030691 Ensembl | MGI Sequence Detail 20084 Not Applicable  
    polypeptide ENSMUSP00000030691 Ensembl | MGI Sequence Detail 5068 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 46
      cDNA 46

      Microarray probesets 5
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 11
      Diseases 1
      Gene Ontology 14
      Phenotypes 13
    • Earliest
      J:57915 Wang X, et al., Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with Rim and Bassoon and binds profilin. J Cell Biol. 1999 Oct 4;147(1):151-62
    • Latest
      J:354049 Pulcrano S, et al., miR-218 Promotes Dopaminergic Differentiation and Controls Neuron Excitability and Neurotransmitter Release through the Regulation of a Synaptic-Related Genes Network. J Neurosci. 2023 Nov 29;43(48):8104-8125
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory