CNTN1 Gene Summary [Human]
The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | CNTN1 |
| Official Name | contactin 1 [Source:HGNC Symbol;Acc:HGNC:2171] |
| Ensembl ID | ENSG00000018236 |
| Bio databases IDs | |
| Aliases | contactin 1, glycoprotein gP135 |
| Synonyms | CMYO12, CMYP12, CNTN, Contactin, contactin 1, Contactin F3, F11, F3, F3cam, GP135, MYPCN, usl |
| 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 CNTN1 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
- FN3
- immunoglobulin domain
- Immunoglobulin like
- Immunoglobulin I-set domain
- enzyme
- protein binding
- carbohydrate binding
- Fibronectin type 3 domain
- Immunoglobulin V-set domain
Pathways
Biological processes and signaling networks where the CNTN1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- major depression
- ataxia
- Compton-North congenital myopathy
- dementia
- gait disturbance
- schizophrenia
- motor dysfunction or movement disorder
- cachexia
- COVID-19
- bipolar disorder
role in cell
- expression in
- invasion by
- growth
- formation
- proliferation
- differentiation
- activation in
- migration
- morphogenesis
- development
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
- myelin enriched fraction
- postsynaptic density (PSD) fractions
- glutaminergic synapse
- cell surface
- cellular membrane
- microdomains
- apical membrane
- presynaptic membrane
- postsynaptic membrane
- nodes of Ranvier
- growth cone
- neurites
- paranodes
- paranodal axolemma
- nodal axolemma
- myelin sheath
- synapse
- mesaxons
- perikaryon
- axons
- dendrites
- plasma
- parallel fiber
- mossy fibers
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CNTN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Notch signaling pathway
- locomotory behavior
- cerebellum development
- positive regulation of gene expression
- positive regulation of sodium ion transport
- central nervous system myelin formation
- axon guidance
- gene expression
- cell adhesion
- positive regulation of neuron projection development
- brain development
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- extracellular vesicular exosome
- postsynaptic membrane
- membrane
- axon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- carbohydrate binding