CBLN1
Description
The CBLN1 (cerebellin 1 precursor) is a protein-coding gene located on chromosome 16.
CBLN1, also known as cerebellin-1 or precerebellin, is a protein crucial for synapse formation and function in the cerebellum. It contributes to the matching and maintenance of pre- and post-synaptic elements at parallel fiber-Purkinje cell synapses, establishing the appropriate pattern of climbing fiber-Purkinje cell innervation, and inducing long-term depression at parallel fiber-Purkinje cell synapses. CBLN1 serves as a synaptic organizer, influencing both pre- and post-synaptic regions. It forms a complex with NRXN1 and GRID2, which is vital for mediating D-serine-dependent long-term depression signals and AMPA receptor endocytosis. It is essential for maintaining excitatory synapses but not their initial formation, and it inhibits the formation and function of inhibitory GABAergic synapses in cerebellar Purkinje cells. CBLN1 interacts with various proteins, including NRXN1, GRID1, GRID2, and OTOL1, forming hexamers and potentially oligomers with other CBLN family members.
CBLN1 is crucial for maintaining the integrity and plasticity of synapses, particularly in the cerebellum. It plays a vital role in the formation of synapses between parallel fibers and Purkinje cells by aligning and stabilizing pre- and post-synaptic components. This includes establishing the appropriate pattern of climbing fiber-Purkinje cell innervation and inducing long-term depression at parallel fiber-Purkinje cell synapses. CBLN1 acts as a synaptic organizer, influencing both pre- and post-synaptic regions. It promotes the accumulation of synaptic vesicles at the pre-synaptic site by interacting with NRXN1 and simultaneously induces the clustering of GRID2 and its associated proteins at the post-synaptic site. This interaction leads to the formation of protrusions from parallel fibers that encapsulate Purkinje cell spines, further enhancing the accumulation of GRID2 and synaptic vesicles. CBLN1 is essential for the secretion of CBLN3 and is involved in mediating D-serine-dependent long-term depression signals and AMPA receptor endocytosis through the NRXN1-CBLN1-GRID2 complex. Although not required for the initial establishment of excitatory synapses, CBLN1 is crucial for their long-term maintenance. It also inhibits the formation and function of inhibitory GABAergic synapses in cerebellar Purkinje cells.
CBLN1 is also known as -.
Associated Diseases
- allergic disease
- spinocerebellar ataxia type 35
- acute kidney failure
- infantile-onset autosomal recessive nonprogressive cerebellar ataxia
- hereditary spastic paraplegia 30
- spinocerebellar ataxia type 37
- spinocerebellar ataxia type 30
- spinocerebellar ataxia type 29
