| Property |
Value |
| Gene Symbol |
CBLN1 |
| Full Name |
Cerebellin 1 |
| Chr Location |
16q24 |
| NCBI Gene ID |
114825 |
| OMIM ID |
604349 |
| Ensembl ID |
ENSG00000102970 |
| UniProt ID |
Q9ULM3 |
| Encoded Protein |
Cerebellin-1 |
| Associated Diseases |
Cerebellar ataxia, autism spectrum disorder, schizophrenia |
CBLN1 (Cerebellin 1) encodes a secreted protein that is a key synaptogenic molecule in the cerebellum. Located on chromosome 16q24, CBLN1 forms a complex with glutamate receptor delta2 (GluRδ2) and neurexin to orchestrate excitatory synapse formation, particularly at parallel fiber-Purkinje cell synapses. Mutations in CBLN1 cause cerebellar ataxia, and altered expression has been linked to autism spectrum disorder and schizophrenia.
CBLN1 encodes cerebellin-1, a secreted protein that is a key synaptogenic molecule in the cerebellum. CBLN1 forms a complex with glutamate receptor delta2 (GluRδ2) and neurexin to orchestrate excitatory synapse formation.
Key normal physiological functions include:
- Synaptogenesis - Essential for parallel fiber-Purkinje cell synapse formation
- GluRδ2 interaction - Binds to glutamate receptor delta2
- Synaptic adhesion - Forms trans-synaptic bridges
- Cerebellar development - Critical for cerebellar circuit formation
- Motor learning - Essential for motor coordination
- Plasticity regulation - Modifies synaptic strength
The protein structure:
- Signal peptide - N-terminal secretion signal
- Cerebellin domain - Core secreted domain
- C-terminal region - Contains conserved cysteine motifs
- CBLN1 mutations cause cerebellar ataxia
- Loss of Purkinje cell synapses
- Motor coordination deficits
- Altered CBLN1 expression in ASD
- Synaptic function disrupted
- Social behavior abnormalities
- Genetic variants associated with schizophrenia
- Altered cerebellar-prefrontal connectivity
CBLN1 is predominantly expressed in the cerebellum:
- Highest expression: Cerebellum (Purkinje cells, granule cells)
- Moderate expression: Cortex, hippocampus
- Cellular localization: Secreted, extracellular matrix
- Cell types: Purkinje neurons, granule neurons
The Allen Brain Atlas shows high CBLN1 expression in:
- Cerebellar Purkinje cells
- Cerebellar granule cells
- Cerebral cortex (moderate)
- Hirai et al., CBLN1 and synaptogenesis (2005)
- Uemura et al., CBLN1-GluRdelta2 interaction (2010)