CBLN1 Gene Summary [Human]
This gene encodes a cerebellum-specific precursor protein, precerebellin, with similarity to the globular (non-collagen-like) domain of complement component C1qB. Precerebellin is processed to give rise to several derivatives, including the hexadecapeptide, cerebellin, which is highly enriched in postsynaptic structures of Purkinje cells. Cerebellin has also been found in human and rat adrenals, where it has been shown to enhance the secretory activity of this gland. [provided by RefSeq, Aug 2008]
Details
| Type | Protein Coding |
| Official Symbol | CBLN1 |
| Official Name | cerebellin 1 precursor [Source:HGNC Symbol;Acc:HGNC:1543] |
| Ensembl ID | ENSG00000102924 |
| Bio databases IDs | |
| Aliases | cerebellin 1 precursor |
| Synonyms | cerebellin 1 precursor, cerebellin 1 precursor protein, CEREBELLIN precursor, D3 clone |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CBLN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- identical protein binding
- C1q domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gait disturbance
- ataxia
- bronchiolo-alveolar adenocarcinoma
- broncho-alveolar lung cancer
- motor dysfunction or movement disorder
- Parkinson disease
- preeclampsia
- ataxia-telangiectasia
role in cell
- differentiation
- abnormal morphology
- organization
- assembly
- innervation
- long term synaptic depression
- cell-cell adhesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- cell surface
- Extracellular Space
- cellular membrane
- postsynaptic membrane
- synapse
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CBLN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cerebellar granule cell differentiation
- synapse assembly
- synapse organization
- nervous system development
- heterophilic cell-cell adhesion
- positive regulation of long term synaptic depression
- synaptic transmission
- establishment of localization in cell
- negative regulation of excitatory postsynaptic membrane potential
- positive regulation of synapse assembly
- protein secretion
Cellular Component
Where in the cell the gene product is active
- synaptic cleft
- postsynaptic membrane
- extracellular region
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding