Cntnap1 Gene Summary [Mouse]
Predicted to enable SH3 domain binding activity. Involved in several processes, including cell-cell junction organization; protein localization to axon; and synapse organization. Acts upstream of or within neuron projection development. Located in paranode region of axon and septate junction. Is active in glutamatergic synapse. Is expressed in optic nerve; sciatic nerve; and spinal cord. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome. Orthologous to human CNTNAP1 (contactin associated protein 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Processed Transcript |
| Official Symbol | Cntnap1 |
| Official Name | contactin associated protein-like 1 [Source:MGI Symbol;Acc:MGI:1858201] |
| Ensembl ID | ENSMUSG00000017167 |
| Bio databases IDs | |
| Aliases | contactin associated protein-like 1 |
| Synonyms | AI841080, CASPR, CHN3, CNTNAP, contactin associated protein 1, contactin associated protein-like 1, NCP1, NRXN4, P190, Paranodin, shm |
| Species | Mouse, Mus musculus |
| 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 mouse Cntnap1 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
- signaling receptor activity
- Coagulation factor 5/8 C-terminal domain, discoidin domain
- LamG
- protein binding
- SH3-domain binding
- EGF_CA
- ERM binding domain
- putative band 4.1 homologues' binding motif
- cytoplasmic domain
- transmembrane domain
- F5/8 type C domain
- membrane-proximal domain
- laminin G domain
- FA58C
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
- lethal congenital contracture syndrome type 7
- distal arthrogryposis type 1A
- major depression
- breast carcinoma
- pervasive developmental disorder
- schizophrenia
- hereditary disorder
- colorectal cancer
- congenital hypomyelinating neuropathy type 3
role in cell
- formation
- production in
- binding
- assembly
- development
- morphology
- abnormal morphology
- organization
- maturation
- morphogenesis
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
- membrane fraction
- glutaminergic synapse
- axon component
- Cytoplasm
- cell surface
- cellular membrane
- Endoplasmic Reticulum
- intercellular junctions
- nodes of Ranvier
- axo-glial junction
- axonal membrane
- paranodes
- paranodal junctions
- paranodal axolemma
- nodal axolemma
- myelin sheath
- juxtaparanodes
- internodes
- synapse
- mesaxons
- Schmidt-Lanterman incisures
- perikaryon
- axons
- dendrites
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cntnap1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of synapse maturation
- cytoskeleton organization
- signal transduction
- neuron projection morphogenesis
- cell adhesion
- protein localization to paranode region of axon
- mitochondrion organization
- central nervous system myelination
- neuromuscular process controlling posture
- myelination in peripheral nervous system
- paranodal junction assembly
- axonogenesis
- postsynaptic density organization
- protein localization to juxtaparanode region of axon
- neuronal action potential propagation
- neuromuscular process controlling balance
Cellular Component
Where in the cell the gene product is active
- paranode region of axon
- presynaptic active zone
- paranodal junction
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- signaling receptor activity
- SH3 domain binding