SYN1 Gene - Synapsin I
A key neuronal phosphoprotein involved in synaptic vesicle regulation and associated with epilepsy and autism spectrum disorders.
Gene Information Card
| Symbol | SYN1 |
|---|---|
| Full Name | Synapsin I |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 6853 ncbi.nlm.nih.gov/gene/6853 |
| Ensembl ID | ENSG00000108059 |
| UniProt ID | P17600 |
| OMIM ID | 313440 |
| HGNC ID | 11494 |
| Aliases | SYN1a, SYN1b, synapsin-1 |
Description
The SYN1 gene encodes synapsin I, a neuronal phosphoprotein that coats synaptic vesicles and regulates neurotransmitter release by tethering vesicles to the actin cytoskeleton. It is essential for synaptogenesis and synaptic plasticity. Mutations in SYN1 are associated with X-linked epilepsy, autism spectrum disorder, and learning disabilities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, X-linked, with variable learning disabilities and behavior disorders | Loss-of-function mutations impair synaptic vesicle clustering and release, leading to neuronal hyperexcitability | ClinVar, OMIM #300491 |
| Autism spectrum disorder | Disruption of synapsin I function alters synaptic transmission and plasticity, contributing to ASD pathogenesis | ClinVar, PubMed studies |
| Intellectual disability | SYN1 mutations reduce synaptic vesicle availability, impairing cognitive function | OMIM #313440 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 42.8 | High |
| Cerebral cortex | 48.2 | High |
| Cerebellum | 35.6 | High |
| Hippocampus | 50.1 | High |
| Testis | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Moderate expression |
| U-87 MG (glioblastoma) | 8.7 | Low expression |
| HEK 293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.172C>T (p.Arg58Ter) | Nonsense | Rare | Loss of function, truncated protein |
| c.677G>A (p.Arg226His) | Missense | Rare | Impaired vesicle binding |
| c.1048_1049del (p.Leu350fs) | Frameshift | Rare | Loss of function, premature stop |
Mutation functional classification
Loss of Function (LOF)
Most SYN1 mutations are loss-of-function, leading to reduced synapsin I levels or impaired vesicle clustering.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; X-linked inheritance with hemizygous males affected.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle clustering | • regulation of neurotransmitter secretion |
| • actin cytoskeleton organization | • synaptic vesicle tethering |
| • calcium-dependent phospholipid binding |
Pathways
• Synaptic vesicle cycle (Reactome R-HSA-421837)
• Neurotransmitter release cycle (Reactome R-HSA-112310)
Protein Summary
Synapsin I is a 705-amino acid neuronal phosphoprotein (UniProt P17600) that binds to synaptic vesicles and actin filaments. It undergoes phosphorylation by Ca2+/calmodulin-dependent protein kinase II (CaMKII) and protein kinase A, regulating vesicle mobilization and neurotransmitter release. The protein contains an N-terminal ATP-binding domain and a C-terminal proline-rich region.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SYN1 Knockout HEK293 Cell Line | EDJ-KQ3395 | Human | 6853 | Details Get a Quote |
| INSYN1 Knockout HEK293 Cell Line | EDJ-KQ13845 | Human | 388135 | Details Get a Quote |
| NADSYN1 Knockout HEK293 Cell Line | EDJ-KQ14364 | Human | 55191 | Details Get a Quote |
| NADSYN1 Knockout A-549 Cell Line | EDJ-KQ44497 | Human | 55191 | Details Get a Quote |
| NADSYN1 Knockout HCT 116 Cell Line | EDJ-KQ44498 | Human | 55191 | Details Get a Quote |
| NADSYN1 Knockout HeLa Cell Line | EDJ-KQ44499 | Human | 55191 | 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 |
| SYN1 Knockout HeLa Cell Line | EDJ-KQ54598 | Human | 6853 | Details Get a Quote |
| INSYN1 Knockout HeLa Cell Line | EDJ-KQ60008 | Human | 388135 | Details Get a Quote |
| SYN1 Knockout A-549 Cell Line | EDJ-KQ63080 | Human | 6853 | Details Get a Quote |
| SYN1 Knockout HCT 116 Cell Line | EDJ-KQ71555 | Human | 6853 | Details Get a Quote |
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