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

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 presynapse to nucleus signaling pathway; 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 and presynaptic active zone cytoplasmic component. 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, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 10.3), cortex adult (RPKM 8.0) and 5 other tissues See more
Orthologs: human all
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Genomic context

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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ADAM10 hyperactivation acts on piccolo to deplete synaptic vesicle stores in Huntington's disease.
Title: ADAM10 hyperactivation acts on piccolo to deplete synaptic vesicle stores in Huntington's disease.
Piccolo is essential for the maintenance of mouse retina but not cochlear hair cell function.
Title: Piccolo is essential for the maintenance of mouse retina but not cochlear hair cell function.
Loss of Piccolino, the synaptic ribbon specific splice variant of Piccolo, disrupts the characteristic plate-shaped structure of synaptic ribbons.
Title: A Multiple Piccolino-RIBEYE Interaction Supports Plate-Shaped Synaptic Ribbons in Retinal Neurons.
Piccolo puncta sandwiched Bassoon puncta and aligned in a Piccolo-Bassoon-Piccolo structure in adult neuromuscular junctions (NMJs). P/Q-type voltage-gated calcium channel (VGCC) puncta colocalized with Bassoon puncta. The P/Q-type VGCC and Bassoon protein levels decreased significantly in NMJs from aged mouse. In contrast, the Piccolo levels in NMJs from aged mice were comparable to levels in adult mice.
Title: Dual-color STED microscopy reveals a sandwich structure of Bassoon and Piccolo in active zones of adult and aged mice.
a function of Piccolino at ribbon synapses of sensory neurons
Title: Identification and immunocytochemical characterization of Piccolino, a novel Piccolo splice variant selectively expressed at sensory ribbon synapses of the eye and ear.
a novel role for Bassoon and Piccolo as critical regulators of presynaptic ubiquitination and proteostasis.
Title: Bassoon and Piccolo maintain synapse integrity by regulating protein ubiquitination and degradation.
Piccolo is an important regulator of presynaptic F-actin, functioning to coordinate its activity-dependent assembly and thereby modulating neurotransmitter release.
Title: Piccolo regulates the dynamic assembly of presynaptic F-actin.
piccolo and bassoon play a redundant role in synaptic vesicle clustering in nerve terminals without directly participating in neurotransmitter release.
Title: Piccolo and bassoon maintain synaptic vesicle clustering without directly participating in vesicle exocytosis.
Piccolo plays a pivotal role in synaptic plasticity in area CA1 and in hippocampus-dependent learning in mice; the extracellular levels of glutamate in the hippocampus under stimulated conditions are controlled by Piccolo.
Title: Piccolo knockdown-induced impairments of spatial learning and long-term potentiation in the hippocampal CA1 region.
Piccolo C2A domain may act as a cytoskeletal regulator for plasmalemmal DAT internalization, which may underlie its contributions in behavioral plasticity.
Title: Identification of Piccolo as a regulator of behavioral plasticity and dopamine transporter internalization.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium-dependent phospholipid binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation 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 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 presynapse to nucleus signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
located_in presynaptic active zone cytoplasmic component	IDA Inferred from Direct Assay more info	PubMed
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

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Preferred Names: protein piccolo

Names: aczonin; brain-derived HLMN protein; multidomain presynaptic cytomatrix protein

NCBI Reference Sequences (RefSeq)

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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)

NM_001110796.2 → NP_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:4622 → 4754

C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins

cd00992
Location:4424 → 4515

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:530 → 591

FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo

pfam02389
Location:401 → 513

Cornifin; Cornifin (SPRR) family

pfam03957
Location:265 → 375

Jun; Jun-like transcription factor

pfam05715
Location:997 → 1053

zf-piccolo; Piccolo Zn-finger

pfam14179
Location:415 → 475

YppG; YppG-like protein

pfam15822
Location:225 → 449

MISS; MAPK-interacting and spindle-stabilizing protein-like
NM_011995.4 → NP_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:4622 → 4754

C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins

cd00992
Location:4424 → 4515

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:530 → 591

FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo

pfam00168
Location:4951 → 5060

C2; C2 domain

pfam02389
Location:401 → 513

Cornifin; Cornifin (SPRR) family

pfam03957
Location:265 → 375

Jun; Jun-like transcription factor

pfam05715
Location:997 → 1053

zf-piccolo; Piccolo Zn-finger

pfam14179
Location:415 → 475

YppG; YppG-like protein

pfam15822
Location:225 → 449

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

NC_000071.7 Reference GRCm39 C57BL/6J

Range

14564924..14913479

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503582.4 → XP_006503645.2 protein piccolo isoform X1

Conserved Domains (10) summary

PTZ00121
Location:1108 → 1607

PTZ00121; MAEBL; Provisional

cd04031
Location:4653 → 4785

C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins

PHA03247
Location:63 → 536

PHA03247; large tegument protein UL36; Provisional

PRK01741
Location:3789 → 3931

PRK01741; cell division protein ZipA; Provisional

PRK10263
Location:3369 → 3911

PRK10263; DNA translocase FtsK; Provisional

PRK14971
Location:903 → 1007

PRK14971; DNA polymerase III subunit gamma/tau

cd00992
Location:4455 → 4546

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:548 → 609

FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo

pfam00168
Location:4982 → 5091

C2; C2 domain

pfam05715
Location:1015 → 1071

zf-piccolo; Piccolo Zn-finger
XM_036165145.1 → XP_036021038.1 protein piccolo isoform X2

Conserved Domains (10) summary

PTZ00121
Location:1108 → 1607

PTZ00121; MAEBL; Provisional

cd04031
Location:4653 → 4776

C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins

PHA03247
Location:63 → 536

PHA03247; large tegument protein UL36; Provisional

PRK01741
Location:3789 → 3931

PRK01741; cell division protein ZipA; Provisional

PRK10263
Location:3369 → 3911

PRK10263; DNA translocase FtsK; Provisional

PRK14971
Location:903 → 1007

PRK14971; DNA polymerase III subunit gamma/tau

cd00992
Location:4455 → 4546

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:548 → 609

FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo

pfam00168
Location:4973 → 5082

C2; C2 domain

pfam05715
Location:1013 → 1071

zf-piccolo; Piccolo Zn-finger
XM_006503584.4 → XP_006503647.2 protein piccolo isoform X4

Conserved Domains (10) summary

PTZ00121
Location:1108 → 1607

PTZ00121; MAEBL; Provisional

cd04031
Location:4494 → 4626

C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins

PHA03247
Location:63 → 536

PHA03247; large tegument protein UL36; Provisional

PRK01741
Location:3630 → 3772

PRK01741; cell division protein ZipA; Provisional

PRK14971
Location:903 → 1007

PRK14971; DNA polymerase III subunit gamma/tau

cd00992
Location:4296 → 4387

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:548 → 609

FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo

pfam07218
Location:3385 → 3611

RAP1; Rhoptry-associated protein 1 (RAP-1)

pfam00168
Location:4823 → 4932

C2; C2 domain

pfam05715
Location:1015 → 1071

zf-piccolo; Piccolo Zn-finger
XM_006503583.4 → XP_006503646.2 protein piccolo isoform X3

Related

ENSMUST00000182426.3

Conserved Domains (10) summary

PTZ00121
Location:1108 → 1607

PTZ00121; MAEBL; Provisional

cd04031
Location:4640 → 4772

C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins

PHA03247
Location:63 → 536

PHA03247; large tegument protein UL36; Provisional

PRK01741
Location:3789 → 3931

PRK01741; cell division protein ZipA; Provisional

PRK10263
Location:3369 → 3911

PRK10263; DNA translocase FtsK; Provisional

PRK14971
Location:903 → 1007

PRK14971; DNA polymerase III subunit gamma/tau

cd00992
Location:4442 → 4533

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:548 → 609

FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo

pfam00168
Location:4969 → 5078

C2; C2 domain

pfam05715
Location:1015 → 1071

zf-piccolo; Piccolo Zn-finger
XM_036165146.1 → XP_036021039.1 protein piccolo isoform X5

Conserved Domains (9) summary

PTZ00121
Location:1108 → 1607

PTZ00121; MAEBL; Provisional

cd04031
Location:4640 → 4763

C2A_RIM1alpha; C2 domain first repeat contained in Rab3-interacting molecule (RIM) proteins

PHA03247
Location:63 → 536

PHA03247; large tegument protein UL36; Provisional

PRK01741
Location:3789 → 3931

PRK01741; cell division protein ZipA; Provisional

PRK10263
Location:3369 → 3911

PRK10263; DNA translocase FtsK; Provisional

PRK14971
Location:903 → 1007

PRK14971; DNA polymerase III subunit gamma/tau

cd00992
Location:4442 → 4533

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:548 → 609

FYVE1_PCLO; FYVE-related domain 1 found in protein piccolo

pfam05715
Location:1013 → 1071

zf-piccolo; Piccolo Zn-finger