NLGN1
Neuroligin 1: A Key Postsynaptic Adhesion Molecule in Excitatory Synapses
Gene Information Card
| Symbol | NLGN1 |
|---|---|
| Full Name | Neuroligin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.31 |
| NCBI Gene ID | 22871 ncbi.nlm.nih.gov/gene/22871 |
| Ensembl ID | ENSG00000169760 |
| UniProt ID | Q8N2Q7 |
| OMIM ID | 600568 |
| HGNC ID | 7757 |
| Aliases | KIAA1070, NL1 |
Description
NLGN1 encodes neuroligin 1, a member of the neuroligin family of neuronal cell surface proteins. Neuroligins act as ligands for neurexins and mediate the formation and maintenance of synapses, particularly excitatory glutamatergic synapses. The protein is localized to the postsynaptic membrane and interacts with scaffolding proteins such as PSD-95. Alternative splicing generates multiple isoforms with distinct binding properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic adhesion and signaling due to missense variants disrupting neuroligin-1 function | PMID: 14634649, 18500334 |
| Schizophrenia | Rare variants in NLGN1 may contribute to synaptic dysfunction and cognitive deficits | PMID: 21743469, 23453885 |
| Intellectual disability | Loss-of-function mutations impair synaptic plasticity and learning | PMID: 18500334, 21572417 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.5 | High |
| Cerebral cortex | 45.2 | High |
| Hippocampus | 42.1 | High |
| Cerebellum | 28.3 | Medium |
| Testis | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.4 | Neuronal model |
| U-87 MG (glioblastoma) | 8.7 | Glial origin |
| HEK 293 (embryonic kidney) | 0.5 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1685C>T (p.Pro562Leu) | Missense | Rare | Reduced surface expression and impaired synaptogenesis |
| c.2023G>A (p.Gly675Arg) | Missense | Rare | Altered neurexin binding affinity |
| c.2269C>T (p.Arg757Cys) | Missense | Rare | Dominant-negative effect on synapse formation |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Pro562Leu) reduce protein stability or surface trafficking, leading to decreased synaptic adhesion.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported in NLGN1.
Dominant Negative (DN)
p.Arg757Cys and other variants may interfere with wild-type neuroligin-1 function by disrupting multimerization or neurexin binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neurexin-neuroligin signaling pathway
• Synaptic adhesion and organization
• PSD-95 associated complex
Protein Summary
Neuroligin 1 is a 843-amino acid type I transmembrane protein with a large extracellular domain containing an acetylcholinesterase-like domain that mediates neurexin binding, a single transmembrane region, and a short cytoplasmic tail with a PDZ-binding motif. It is essential for proper synaptic differentiation and function, particularly at excitatory synapses. The protein undergoes alternative splicing at sites A and B, influencing neurexin isoform specificity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NLGN1 Knockout HEK293 Cell Line | EDJ-KQ7707 | Human | 22871 | Details Get a Quote |
| NLGN1 Knockout HeLa Cell Line | EDJ-KQ55647 | Human | 22871 | Details Get a Quote |
| NLGN1 Knockout A-549 Cell Line | EDJ-KQ64147 | Human | 22871 | Details Get a Quote |
| NLGN1 Knockout HCT 116 Cell Line | EDJ-KQ72594 | Human | 22871 | Details Get a Quote |
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