INSYN1: Inhibitory Synaptic Protein 1
A postsynaptic scaffold protein involved in inhibitory synapse organization and function.
Gene Information Card
| Symbol | INSYN1 |
|---|---|
| Full Name | Inhibitory Synaptic Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617511 |
| HGNC ID | 40016 |
| Aliases | C15orf59, FAM196B, bA100C15.2 |
Description
INSYN1 encodes a postsynaptic protein that localizes to inhibitory synapses and interacts with gephyrin and GABA-A receptors. It is involved in the clustering and stabilization of inhibitory neurotransmitter receptors, thereby regulating synaptic inhibition and neural circuit excitability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Disrupted inhibitory synapse organization due to INSYN1 loss-of-function variants | ClinVar: pathogenic variants reported in patients with developmental delay, hypotonia, and structural brain anomalies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.2 | Medium |
| Cerebellum | 10.8 | Medium |
| Testis | 3.1 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | 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.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.389_390del (p.Leu130Profs*12) | Frameshift | Rare | Loss of function; truncation of protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing inhibitory synapse clustering.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GABAergic synapse (GO:0097114) | • postsynaptic specialization (GO:0098982) |
| • inhibitory synapse assembly (GO:0099560) | • synapse organization (GO:0050808) |
Pathways
• GABAergic synapse (Reactome R-HSA-888590)
• Protein-protein interactions at synapses (Reactome R-HSA-6794362)
Protein Summary
INSYN1 is a 196-amino-acid protein containing a conserved C-terminal domain that mediates interaction with gephyrin. It is enriched at inhibitory postsynaptic sites and is essential for proper clustering of GABA-A receptors. Loss of INSYN1 disrupts inhibitory neurotransmission and is linked to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INSYN1 Knockout HEK293 Cell Line | EDJ-KQ13845 | Human | 388135 | Details Get a Quote |
| INSYN1 Knockout A-549 Cell Line | EDJ-KQ43685 | Human | 388135 | Details Get a Quote |
| INSYN1 Knockout HCT 116 Cell Line | EDJ-KQ43686 | Human | 388135 | Details Get a Quote |
| INSYN1 Knockout HeLa Cell Line | EDJ-KQ60008 | Human | 388135 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
