CBLN1 (Cerebellin 1 Precursor)
A key regulator of synapse formation and cerebellar function, implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | CBLN1 |
|---|---|
| Full Name | Cerebellin 1 Precursor |
| Gene Type | Protein coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 869 ncbi.nlm.nih.gov/gene/869 |
| Ensembl ID | ENSG00000102924 |
| UniProt ID | P23435 |
| OMIM ID | 601104 |
| HGNC ID | 1543 |
| Aliases | CBLN, cerebellin |
Description
CBLN1 encodes cerebellin 1, a secreted protein that plays a critical role in synapse formation and maintenance, particularly in the cerebellum. It is involved in the regulation of synaptic plasticity and neuronal connectivity. Mutations and altered expression of CBLN1 are associated with neurodevelopmental disorders, cerebellar ataxia, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cerebellar Ataxia | Loss of CBLN1 function disrupts synapse formation in cerebellar Purkinje cells, leading to motor coordination deficits. | ClinVar, OMIM |
| Schizophrenia | Reduced CBLN1 expression may impair synaptic connectivity in the prefrontal cortex, contributing to cognitive symptoms. | NCBI Gene, PubMed |
| Colorectal Cancer | CBLN1 promoter hypermethylation leads to gene silencing, promoting tumor growth and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | High |
| Cerebral Cortex | 1.2 | Low |
| Testis | 0.8 | Low |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 2.3 | Moderate expression |
| HeLa (cervical cancer) | 0.5 | Low expression |
| HCT116 (colorectal cancer) | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76Cys) | Missense | <0.01% | Reduced protein secretion and synapse formation |
| c.347G>A (p.Arg116His) | Missense | <0.01% | Impaired binding to neurexin receptors |
| Promoter hypermethylation | Epigenetic | Variable | Gene silencing in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg76Cys) reduce protein secretion and disrupt synapse formation, leading to cerebellar ataxia.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • synapse assembly | • cell adhesion |
| • protein secretion | • calcium ion binding |
| • extracellular region |
Pathways
• Neurexin-Neuroligin signaling
• Synaptic cleft organization
• Cerebellar development
Protein Summary
Cerebellin 1 is a 193-amino acid secreted protein that forms homotrimers and binds to neurexin receptors to promote synapse formation. It is highly expressed in the cerebellum and is essential for motor learning and coordination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CBLN1 Knockout HEK293 Cell Line | EDJ-KQ3519 | Human | 869 | Details Get a Quote |
| CBLN1 Knockout HeLa Cell Line | EDJ-KQ52797 | Human | 869 | Details Get a Quote |
| CBLN1 Knockout A-549 Cell Line | EDJ-KQ61268 | Human | 869 | Details Get a Quote |
| CBLN1 Knockout HCT 116 Cell Line | EDJ-KQ69762 | Human | 869 | Details Get a Quote |
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