CPLX1
Complexin 1: A key regulator of synaptic vesicle exocytosis and neurotransmitter release
Gene Information Card
| Symbol | CPLX1 |
|---|---|
| Full Name | complexin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 10815 ncbi.nlm.nih.gov/gene/10815 |
| Ensembl ID | ENSG00000168993 |
| UniProt ID | O14810 |
| OMIM ID | 605032 |
| HGNC ID | 2309 |
| Aliases | CPX1, complexin I, synaphin I |
Description
CPLX1 encodes complexin 1, a cytosolic protein that binds to the SNARE complex and regulates synaptic vesicle exocytosis. It stabilizes the SNARE complex in a primed state and facilitates fast, synchronous neurotransmitter release. CPLX1 is predominantly expressed in the brain and is essential for normal synaptic transmission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, early infantile epileptic encephalopathy 77 (EIEE77) | Loss-of-function mutations in CPLX1 impair SNARE complex stabilization, leading to defective neurotransmitter release and neuronal hyperexcitability. | ClinVar: Pathogenic variants associated with EIEE77. |
| Schizophrenia | Altered CPLX1 expression may disrupt synaptic vesicle dynamics, contributing to synaptic dysfunction in schizophrenia. | NCBI Gene: Expression studies show reduced CPLX1 mRNA in postmortem brain tissue. |
| Autism spectrum disorder | Rare CPLX1 variants may affect synaptic transmission and neural circuit development. | OMIM: Variants reported in autism cohorts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.2 | High |
| Cerebral cortex | 45.1 | High |
| Cerebellum | 52.3 | High |
| Hippocampus | 40.8 | High |
| Testis | 1.2 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 12.4 | Neuroblastoma cell line |
| SK-N-SH | 10.1 | Neuroblastoma cell line |
| HEK293 | 0.3 | Low expression |
| HeLa | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.160C>T (p.Arg54*) | Nonsense | Rare | Loss-of-function; truncation of complexin 1 protein. |
| c.203_204del (p.Glu68Glyfs*13) | Frameshift | Rare | Loss-of-function; premature stop codon. |
| c.91G>A (p.Gly31Arg) | Missense | Rare | Likely loss-of-function; disrupts SNARE binding. |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent complexin 1, impairing SNARE complex stabilization and neurotransmitter release.
Gain of Function (GOF)
No gain-of-function mutations reported for CPLX1.
Dominant Negative (DN)
Missense mutations may exert dominant-negative effects by interfering with SNARE complex binding.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle exocytosis | • SNARE complex binding |
| • regulation of neurotransmitter secretion | • calcium-dependent exocytosis |
| • neuron projection |
Pathways
• Neurotransmitter release cycle
• SNARE interactions in vesicular transport
Protein Summary
Complexin 1 is a 134-amino acid protein that binds to the SNARE complex via its central alpha-helix. It clamps the SNARE complex to prevent spontaneous fusion and is released upon calcium influx to trigger rapid exocytosis. The protein is highly conserved and essential for synchronous neurotransmitter release in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPLX1 Knockout HEK293 Cell Line | EDJ-KQ7180 | Human | 10815 | Details Get a Quote |
| CPLX1 Knockout HCT 116 Cell Line | EDJ-KQ32111 | Human | 10815 | Details Get a Quote |
| CPLX1 Knockout HeLa Cell Line | EDJ-KQ55494 | Human | 10815 | Details Get a Quote |
| CPLX1 Knockout A-549 Cell Line | EDJ-KQ63983 | Human | 10815 | Details Get a Quote |
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