Cerebellin-1 is a Small secreted protein involved in synaptic formation and maintenance, particularly in the cerebellum.
| Property |
Value |
| Protein Name |
Cerebellin-1 |
| Gene |
CBLN1 |
| UniProt ID |
Q9ULM3 |
| Molecular Weight |
~30 kDa (dimer: ~60 kDa) |
| Subcellular Localization |
Secreted, extracellular matrix |
| Protein Family |
Cerebellin family |
CBLN1 is a secreted protein that forms homodimers. It contains a conserved cerebellin domain that mediates receptor binding and synaptogenic activity. The protein is secreted and localizes to the synaptic cleft.
CBLN1 is essential for cerebellar synapse formation:
- Synaptogenesis: Essential for parallel fiber-Purkinje cell synapse formation
- GluRδ2 Binding: Forms complex with glutamate receptor delta2 (GluRδ2)
- Neurexin Interaction: Binds to presynaptic neurexins
- Trans-synaptic Adhesion: Organizes the synaptic cleft
- Motor Learning: Critical for motor coordination and plasticity
- CBLN1 mutations cause cerebellar ataxia
- Loss of Purkinje cell synapses
- Motor coordination deficits
- Altered expression in ASD brains
- Social behavior abnormalities
- Genetic associations
- Cerebellar-prefrontal dysfunction
CBLN1 represents a target for:
- Cerebellar disorders
- Motor coordination deficits
- Hirai et al., CBLN1 is a synaptogenic factor (2005)
- Uemura et al., CBLN1 and GluRδ2 complex (2010)
- Pulst et al., SCA2 identification (1996)
- Elden et al., ATXN2 expansions in ALS (2010)
- Bhattacharjee et ATXN2 in RNA metabolism (2011)
- Last et al., Ataxin-2 function and disease (2020)
- Sato et al., ATXN2 in Parkinson's disease (2019)
- Gispert-Sanchez et al., ATXN2 and RNA granules (2015)
- Nonis et al., ATXN2 in diabetes (2022)
- Kumar et al., ATXN2 therapeutic targeting (2021)