Cbln1 cerebellin 1 precursor protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cbln1provided by MGI
Official Full Name: cerebellin 1 precursor proteinprovided by MGI
Primary source: MGI:MGI:88281
See related: Ensembl:ENSMUSG00000031654 AllianceGenome:MGI:88281
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
Summary: Enables identical protein binding activity. Involved in several processes, including cerebellar granule cell differentiation; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and regulation of synapse assembly. Acts upstream of or within positive regulation of synapse assembly and protein secretion. Located in several cellular components, including glutamatergic synapse; parallel fiber to Purkinje cell synapse; and synaptic cleft. Is expressed in several structures, including central nervous system; limb; oral region epithelium; reproductive system; and sensory organ. Orthologous to human CBLN1 (cerebellin 1 precursor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 226.7), whole brain E14.5 (RPKM 20.2) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 C3; 8 42.16 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (88195481..88199220, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (87468853..87472592, complement)

Chromosome 8 - NC_000074.7 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?

Cbln1 Directs Axon Targeting by Corticospinal Neurons Specifically toward Thoraco-Lumbar Spinal Cord.
Title: Cbln1 Directs Axon Targeting by Corticospinal Neurons Specifically toward Thoraco-Lumbar Spinal Cord.
Dysfunction of Glutamate Delta-1 Receptor-Cerebellin 1 Trans-Synaptic Signaling in the Central Amygdala in Chronic Pain.
Title: Dysfunction of Glutamate Delta-1 Receptor-Cerebellin 1 Trans-Synaptic Signaling in the Central Amygdala in Chronic Pain.
Long noncoding RNA PM maintains cerebellar synaptic integrity and Cbln1 activation via Pax6/Mll1-mediated H3K4me3.
Title: Long noncoding RNA PM maintains cerebellar synaptic integrity and Cbln1 activation via Pax6/Mll1-mediated H3K4me3.
GluD2- and Cbln1-mediated competitive interactions shape the dendritic arbors of cerebellar Purkinje cells.
Title: GluD2- and Cbln1-mediated competitive interactions shape the dendritic arbors of cerebellar Purkinje cells.
Cbln4 partially rescued and both glycosylation mutants completely rescued ataxia in cbln1-null mice
Title: Glycosylation of Cblns attenuates their receptor binding.
Results show that Cbln1, Cbln2, and Cbln4 are abundantly expressed in nearly all brain regions, but exhibit strikingly different expression patterns and developmental dynamics. Using newly generated knockin reporter mice for Cbln2 and Cbln4, we find that Cbln2 and Cbln4 are not universally expressed in all neurons, but only in specific subsets of neurons.
Title: Cerebellins are differentially expressed in selective subsets of neurons throughout the brain.
results suggest that gene and seizure interactions in ventral tegmental area glutamatergic neurons impair sociability by downregulating Cbln1, a key node in the expanding protein interaction network of autism genes
Title: Autism gene Ube3a and seizures impair sociability by repressing VTA Cbln1.
Despites its well known role in motor coordination and motor learning, whether and how the cerebellum is involved in cognitive functions remains less clear. Cerebellin 1 (Cbln1) is highly expressed in the cerebellum and serves as an essential synaptic organizer. Although genes encoding Cbln1 and its receptor are associated with many psychiatric disorders, it remains unknown whether such cognitive impairments are caused by
Title: Roles of Cbln1 in Non-Motor Functions of Mice.
amplitude and frequency of mIPSCs were increased in cbln1-null cerebellar slices.
Title: Cbln1 downregulates the formation and function of inhibitory synapses in mouse cerebellar Purkinje cells.
This study provides evidence for involvement of Cbln1 in nociception and provides a platform for continued exploration of involvement of novel neuropeptides in the regulation of nociceptive transmission
Title: Identification and quantification of neuropeptides in naïve mouse spinal cord using mass spectrometry reveals [des-Ser1]-cerebellin as a novel modulator of nociception.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Variation

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Alleles

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

Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:464655 (e-PCR)
- UniSTS:464655

Cbln1 (e-PCR), detects polymorphism
- UniSTS:464655

Cbln1 (e-PCR), detects polymorphism
- UniSTS:525884

Cbln1 (e-PCR), detects polymorphism
- UniSTS:525885

AI323299 (e-PCR)
- UniSTS:179778

Cbln1 (e-PCR), detects polymorphism
- UniSTS:498499

RH142530 (e-PCR)
- UniSTS:231777

Cbln1 (e-PCR), detects polymorphism
- UniSTS:474745

Cbln1 (e-PCR), detects polymorphism
- UniSTS:141247

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cerebellar granule cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IGI Inferred from Genetic Interaction more info	PubMed
involved_in maintenance of synapse structure	IBA Inferred from Biological aspect of Ancestor more info
involved_in maintenance of synapse structure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of excitatory postsynaptic potential	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of inhibitory synapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of long-term synaptic depression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of synapse assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of synapse assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic density assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic density assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of presynapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of presynapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of synapse assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of synapse assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in trans-synaptic signaling, modulating synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in trans-synaptic signaling, modulating synaptic transmission	IEP Inferred from Expression Pattern more info	PubMed
involved_in trans-synaptic signaling, modulating synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in parallel fiber to Purkinje cell synapse	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic cleft	IBA Inferred from Biological aspect of Ancestor more info
is_active_in synaptic cleft	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cerebellin-1

Names: brain protein D3; precerebellin

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.