VAMP1: Vesicle Associated Membrane Protein 1
Key regulator of synaptic vesicle exocytosis and neurotransmitter release
Gene Information Card
| Symbol | VAMP1 |
|---|---|
| Full Name | Vesicle Associated Membrane Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p11.21 |
| NCBI Gene ID | 6843 ncbi.nlm.nih.gov/gene/6843 |
| Ensembl ID | ENSG00000139190 |
| UniProt ID | P23763 |
| OMIM ID | 185880 |
| HGNC ID | 12642 |
| Aliases | SYB1, VAMP-1, synaptobrevin 1 |
Description
VAMP1 (vesicle associated membrane protein 1), also known as synaptobrevin 1, is a member of the SNARE protein family. It is a key component of the synaptic vesicle docking and fusion machinery, mediating exocytosis of neurotransmitters at the presynaptic terminal. VAMP1 forms a complex with syntaxin and SNAP-25 to facilitate vesicle fusion. Mutations in VAMP1 are associated with congenital myasthenic syndrome and other neuromuscular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital myasthenic syndrome (CMS) | Loss-of-function mutations impair SNARE complex assembly, reducing acetylcholine release at the neuromuscular junction | ClinVar, OMIM #185880 |
| Spastic paraplegia (rare) | Disruption of vesicle trafficking in motor neurons | ClinVar, PubMed |
| Neurodevelopmental disorders | Altered synaptic transmission due to VAMP1 deficiency | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 8.2 | Low |
| Skeletal muscle | 6.1 | Low |
| Heart | 4.3 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| U-87 MG (glioblastoma) | 9.5 | Glial expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208G>A (p.Gly70Arg) | Missense | Rare | Impaired SNARE binding; CMS |
| c.340C>T (p.Arg114Trp) | Missense | Rare | Reduced vesicle fusion; CMS |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein; CMS |
Mutation functional classification
Loss of Function (LOF)
Most VAMP1 mutations cause loss of function by disrupting SNARE complex formation or reducing protein stability, leading to impaired neurotransmitter release.
Gain of Function (GOF)
No gain-of-function mutations reported for VAMP1.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type SNARE assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neurotransmitter release (Reactome R-HSA-210500)
• SNARE interactions in vesicular transport (KEGG hsa04130)
• Synaptic vesicle cycle (KEGG hsa04721)
Protein Summary
VAMP1 (synaptobrevin 1) is a 118-amino acid integral membrane protein of synaptic vesicles. It contains a conserved SNARE motif that mediates assembly with syntaxin and SNAP-25 into a stable four-helix bundle, driving vesicle fusion. The protein is essential for fast, synchronous neurotransmitter release at central and peripheral synapses. Mutations cause congenital myasthenic syndrome by impairing acetylcholine release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VAMP1 Knockout HEK293 Cell Line | EDJ-KQ2330 | Human | 6843 | Details Get a Quote |
| VAMP1 Knockout A-549 Cell Line | EDJ-KQ22728 | Human | 6843 | Details Get a Quote |
| VAMP1 Knockout HCT 116 Cell Line | EDJ-KQ22729 | Human | 6843 | Details Get a Quote |
| VAMP1 Knockout HeLa Cell Line | EDJ-KQ22730 | Human | 6843 | Details Get a Quote |
| VAMP1 Knockout HAP1 Cell Line | EDC08239 | Human | 6843 | Details Get a Quote |
