Mus musculus Protein: Cbln1
Summary
InnateDB Protein IDBP-621299.2
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Cbln1
Protein Name cerebellin 1 precursor protein
Synonyms AI323299;
Species Mus musculus
Ensembl Protein ENSMUSP00000126575
InnateDB Gene IDBG-178238 (Cbln1)
Protein Structure
UniProt Annotation
Function Required for synapse integrity and synaptic plasticity. During cerebellar synapse formation, essential for the formation and maintenance of parallel fiber and Purkinje cell synapses. When parallel fibers make contact with Purkinje spines, CBLN1 interaction with GRID2 triggers the recruitment of NRXN1 and secretory vesicles to the sites of contact. NRXN1-CBLN1-GRID2 signaling induces presynaptic morphological changes, which may further accumulate pre- and postsynaptic components to promote bidirectional maturation of parallel fiber - Purkinje cell functionnally active synapses by a positive feedback mechanism. Required for CBLN3 export from the endoplasmic reticulum and secretion. {ECO:0000269PubMed:16234806, ECO:0000269PubMed:17030622, ECO:0000269PubMed:17331201, ECO:0000269PubMed:20395510, ECO:0000269PubMed:21410790, ECO:0000269PubMed:23141067}.The cerebellin peptide exerts neuromodulatory functions. Directly stimulates norepinephrine release via the adenylate cyclase/PKA-dependent signaling pathway; and indirectly enhances adrenocortical secretion in vivo, through a paracrine mechanism involving medullary catecholamine release (By similarity). {ECO:0000250}.
Subcellular Localization Secreted. Cell junction, synapse, postsynaptic cell membrane. Note=Interaction with CBLN3 may cause partial retention in the endoplasmic reticulum.
Disease Associations
Tissue Specificity Expressed and secreted by presynaptic neurons, such as cerebellar granule cells. Following secretion, the protein binds to GRID2 on the postsynaptic Purkinje cell membranes. Expressed at the highest level in the cerebellar cortex. High levels are also seen in the olfactory bulb, posterior part of the cerebral cortex, certain thalamic nuclei, and deep cerebellar nuclei. Low to moderate levels are detected in some hypothalamic and brainstem nuclei. In the thalamus, expressed in parafascicular nucleus neurons and other regions (at protein level). {ECO:0000269PubMed:16930405, ECO:0000269PubMed:17030622, ECO:0000269PubMed:22220752, ECO:0000269PubMed:23141067, ECO:0000269PubMed:3199194, ECO:0000269PubMed:3420533}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0007157 heterophilic cell-cell adhesion
GO:0009306 protein secretion
GO:0021707 cerebellar granule cell differentiation
GO:0051965 positive regulation of synapse assembly
Cellular Component
GO:0005576 extracellular region
GO:0030054 cell junction
GO:0045202 synapse
GO:0045211 postsynaptic membrane
Protein Structure and Domains
PDB ID MGI:88281
InterPro IPR001073 Complement C1q protein
IPR008983 Tumour necrosis factor-like domain
PFAM PF00386
PRINTS PR00007
PIRSF
SMART SM00110
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9R171
PhosphoSite PhosphoSite-Q9R171
TrEMBL Q80W16
UniProt Splice Variant
Entrez Gene 12404
UniGene Mm.470723
RefSeq
MGI ID
MGI Symbol Cbln1
OMIM
CCDS CCDS22506
HPRD
IMGT
EMBL AF164680 BC051956 BC055730 BC132120 BC132122 CH466525 X61448
GenPept AAD47280 AAH51956 AAH55730 AAI32121 AAI32123 CAA43688 EDL11038