CNTN1 (Contactin 1)
A neural cell adhesion molecule involved in neurodevelopment and peripheral neuropathy
Gene Information Card
| Symbol | CNTN1 |
|---|---|
| Full Name | Contactin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 1272 ncbi.nlm.nih.gov/gene/1272 |
| Ensembl ID | ENSG00000182362 |
| UniProt ID | Q12860 |
| OMIM ID | 600016 |
| HGNC ID | 2171 |
| Aliases | F3, GP135, contactin |
Description
CNTN1 encodes Contactin 1, a glycosylphosphatidylinositol (GPI)-anchored neuronal cell adhesion molecule of the immunoglobulin superfamily. It is primarily expressed in the nervous system and plays critical roles in axon guidance, neurite outgrowth, and myelination. CNTN1 interacts with receptor protein tyrosine phosphatases and contributes to the formation of the paranodal junction in myelinated axons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital myopathy with neuropathy | Loss-of-function mutations in CNTN1 disrupt paranodal junctions, leading to muscle weakness and peripheral neuropathy | ClinVar, OMIM |
| Autosomal recessive intellectual disability | CNTN1 variants impair synaptic adhesion and neuronal connectivity | ClinVar, OMIM |
| Hereditary motor and sensory neuropathy (HMSN) | CNTN1 mutations affect axon-glia interactions, causing demyelination and axonal degeneration | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.5 | High |
| Spinal cord | 22.1 | High |
| Peripheral nerve | 18.3 | High |
| Heart | 1.2 | Low |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | Neuronal model |
| U-87 MG (glioblastoma) | 8.2 | Glial model |
| HEK293 (embryonic kidney) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncated protein |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature stop |
| c.890G>A (p.Arg297His) | Missense | Rare | Impaired protein folding and adhesion |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent Contactin 1 protein, causing neurodevelopmental and neuromuscular disorders.
Gain of Function (GOF)
Not reported for CNTN1.
Dominant Negative (DN)
Not reported for CNTN1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell adhesion molecules (CAMs) – KEGG hsa04514
• Axon guidance – KEGG hsa04360
• Neuroactive ligand-receptor interaction – KEGG hsa04080
Protein Summary
Contactin 1 is a 130 kDa GPI-anchored glycoprotein with six immunoglobulin-like domains and four fibronectin type III repeats. It is expressed on the surface of neurons and glial cells, where it mediates cell-cell interactions essential for myelination and nodal architecture. Mutations in CNTN1 lead to disrupted paranodal junctions, resulting in peripheral neuropathy and congenital myopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNTN1 Knockout HEK293 Cell Line | EDJ-KQ4305 | Human | 1272 | Details Get a Quote |
| CNTN1 Knockout HCT 116 Cell Line | EDJ-KQ25505 | Human | 1272 | Details Get a Quote |
| CNTN1 Knockout A-549 Cell Line | EDJ-KQ26797 | Human | 1272 | Details Get a Quote |
| CNTN1 Knockout HeLa Cell Line | EDJ-KQ52947 | Human | 1272 | Details Get a Quote |
