CHL1 Gene Summary [Human]
The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]
Details
| Type | Protein Coding |
| Official Symbol | CHL1 |
| Official Name | cell adhesion molecule L1 like [Source:HGNC Symbol;Acc:HGNC:1939] |
| Ensembl ID | ENSG00000134121 |
| Bio databases IDs | |
| Aliases | cell adhesion molecule L1 like, neural cell adhesion molecule, close homolog of L1 |
| Synonyms | A530023M13Rik, AI465420, CALL, cell adhesion molecule L1-like, L1CAM2, LICAM2, LOC108350698 |
| 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 CHL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- protease binding
- immunoglobulin domain
- ectodomain
- Immunoglobulin I-set domain
- protein binding
- Fibronectin type 3 domain
- T-cell surface glycoprotein CD3 delta chain
- integrin binding domain
- FIGAY motif
- FN3
- Immunoglobulin like
- Bravo-like intracellular region
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- endometriosis
- COVID-19
- Alzheimer disease
- malignant peripheral nerve sheath tumor
- cancer
- renal clear cell adenocarcinoma
- renal clear cell cancer
- Parkinson disease
- sudden cardiac arrest
- digestive system disorder
role in cell
- migration
- apoptosis
- cell death
- quantity
- density
- differentiation
- development
- accumulation
- accumulation in
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- apical compartment
- cellular membrane
- growth cone
- synaptosomes
- perikaryon
- dendrites
- axon terminals
- mossy fibers
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- exploration behavior
- neuron migration
- cognition
- signal transduction
- axon guidance
- cell adhesion
- adult locomotory behavior
- negative regulation of neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- dendrite
- extracellular vesicular exosome
- apical part of cell
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protease binding