SYT1 (Synaptotagmin 1)
Key regulator of calcium-dependent neurotransmitter release and synaptic vesicle exocytosis
Gene Information Card
| Symbol | SYT1 |
|---|---|
| Full Name | Synaptotagmin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q21.2 |
| NCBI Gene ID | 6857 ncbi.nlm.nih.gov/gene/6857 |
| Ensembl ID | ENSG00000067715 |
| UniProt ID | P21579 |
| OMIM ID | 185605 |
| HGNC ID | 11509 |
| Aliases | SytI, SVP65, p65 |
Description
SYT1 encodes synaptotagmin 1, a synaptic vesicle membrane protein that acts as a calcium sensor for fast, synchronous neurotransmitter release. It contains two C2 domains (C2A and C2B) that bind calcium and phospholipids, triggering vesicle fusion with the presynaptic membrane. SYT1 is essential for exocytosis in neurons and neuroendocrine cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Baker-Gordon syndrome (BAGOS) | Missense mutations in SYT1 impair calcium-dependent synaptic vesicle exocytosis, leading to neurodevelopmental delay, hypotonia, and oculomotor abnormalities. | ClinVar, OMIM #618218 |
| SYT1-related neurodevelopmental disorder | De novo dominant mutations disrupt calcium sensing or vesicle fusion, causing intellectual disability, epilepsy, and movement disorders. | ClinVar, PubMed: 30290153 |
| Autism spectrum disorder (ASD) | Rare SYT1 variants identified in ASD cohorts may alter synaptic transmission. | COSMIC, PubMed: 25363760 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 78.2 | High |
| Cerebral cortex | 85.6 | High |
| Cerebellum | 72.1 | High |
| Hippocampus | 90.3 | High |
| Testis | 4.5 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 62.4 | Neuroblastoma cell line |
| SK-N-SH | 58.9 | Neuroblastoma cell line |
| HEK293 | 0.8 | Low expression |
| HeLa | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1108C>T (p.Arg370Trp) | Missense | De novo | Impaired calcium binding; Baker-Gordon syndrome |
| c.1126C>T (p.Arg376Trp) | Missense | De novo | Reduced vesicle fusion; neurodevelopmental disorder |
| c.923G>A (p.Arg308His) | Missense | De novo | Altered C2A domain function; intellectual disability |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., nonsense, frameshift) are rare; complete loss may be lethal.
Gain of Function (GOF)
Gain-of-function mutations have not been clearly described for SYT1.
Dominant Negative (DN)
Most pathogenic missense mutations act via dominant-negative mechanisms, disrupting calcium sensing and vesicle exocytosis.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Neurotransmitter release cycle (Reactome: R-HSA-112310)
• Calcium-dependent exocytosis (KEGG: hsa04721)
Protein Summary
Synaptotagmin 1 is a 422-amino-acid integral membrane protein of synaptic vesicles. It has a short N-terminal intravesicular domain, a single transmembrane region, and two cytoplasmic C2 domains (C2A and C2B). The C2B domain binds calcium and phospholipids, promoting SNARE complex assembly and fast vesicle fusion. SYT1 is the primary calcium sensor for synchronous neurotransmitter release in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYT1 Knockout HEK293 Cell Line | EDJ-KQ5135 | Human | 6857 | Details Get a Quote |
| SYT11 Knockout HEK293 Cell Line | EDJ-KQ7894 | Human | 23208 | Details Get a Quote |
| ESYT1 Knockout HEK293 Cell Line | EDJ-KQ7983 | Human | 23344 | Details Get a Quote |
| SYT15 Knockout HEK293 Cell Line | EDJ-KQ9905 | Human | 83849 | Details Get a Quote |
| SYT16 Knockout HEK293 Cell Line | EDJ-KQ9912 | Human | 83851 | Details Get a Quote |
| SYT12 Knockout HEK293 Cell Line | EDJ-KQ10773 | Human | 91683 | Details Get a Quote |
| SYT17 Knockout HEK293 Cell Line | EDJ-KQ11215 | Human | 51760 | Details Get a Quote |
| SYT14 Knockout HEK293 Cell Line | EDJ-KQ11812 | Human | 255928 | Details Get a Quote |
| SYT10 Knockout HEK293 Cell Line | EDJ-KQ15586 | Human | 341359 | Details Get a Quote |
| SYT13 Knockout HEK293 Cell Line | EDJ-KQ15587 | Human | 57586 | Details Get a Quote |
| SYT15B Knockout HEK293 Cell Line | EDJ-KQ15588 | Human | 102724488 | Details Get a Quote |
| SYT12 Knockout A-549 Cell Line | EDJ-KQ37093 | Human | 91683 | Details Get a Quote |
| SYT1 Knockout A-549 Cell Line | EDJ-KQ29366 | Human | 6857 | Details Get a Quote |
| SYT1 Knockout HCT 116 Cell Line | EDJ-KQ29367 | Human | 6857 | Details Get a Quote |
| ESYT1 Knockout A-549 Cell Line | EDJ-KQ32361 | Human | 23344 | Details Get a Quote |
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