SNAPIN
SNAP-Associated Protein; Key Regulator of Vesicle Trafficking and Autophagy
Gene Information Card
| Symbol | SNAPIN |
|---|---|
| Full Name | SNAP-associated protein |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 23557 ncbi.nlm.nih.gov/gene/23557 |
| Ensembl ID | ENSG00000143546 |
| UniProt ID | O95295 |
| OMIM ID | 607007 |
| HGNC ID | 11145 |
| Aliases | BLOC1S7, SNAPAP, BORCS7 |
Description
SNAPIN encodes a protein that interacts with SNAP-25 and other SNARE complex components, playing a critical role in vesicle docking, fusion, and neurotransmitter release. It is also a subunit of the BLOC-1 and BORC complexes, involved in lysosome biogenesis, endosomal trafficking, and autophagy. Mutations in SNAPIN are associated with neurodevelopmental disorders and neurodegeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations impair SNARE-mediated vesicle fusion and autophagy | PMID: 31006510 |
| Hereditary spastic paraplegia | Disrupted axonal transport and endolysosomal trafficking | PMID: 32041955 |
| Amyotrophic lateral sclerosis (ALS) | SNAPIN mislocalization and impaired autophagy in motor neurons | PMID: 28714986 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.2 | Neuronal model |
| HeLa (cervical carcinoma) | 9.7 | Epithelial |
| HEK293 (embryonic kidney) | 8.5 | Common expression system |
| U-87 MG (glioblastoma) | 11.0 | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression |
| c.208C>T (p.Arg70Trp) | Missense | 0.01% | Impaired SNAP-25 binding |
| c.334_336del (p.Lys112del) | In-frame deletion | Rare | Disrupted BLOC-1 complex assembly |
Mutation functional classification
Loss of Function (LOF)
Start-loss and nonsense mutations lead to truncated or absent protein, impairing vesicle trafficking and autophagy.
Gain of Function (GOF)
Not reported for SNAPIN.
Dominant Negative (DN)
Missense variants (e.g., p.Arg70Trp) may interfere with SNARE complex formation in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SNARE interactions in vesicular transport (Reactome: R-HSA-204005)
• Autophagy (KEGG: hsa04140)
• BLOC-1 complex pathway (Reactome: R-HSA-389661)
Protein Summary
SNAPIN is a 136-amino-acid protein (15 kDa) that localizes to the cytosol and membranes. It contains a coiled-coil domain mediating interactions with SNAP-25, syntaxin, and VAMP. As part of the BLOC-1 and BORC complexes, it regulates lysosome positioning and autophagosome-lysosome fusion. SNAPIN is highly expressed in brain and testis, and its dysfunction is linked to neurodevelopmental and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SNAPIN Knockout HEK293 Cell Line | EDJ-KQ3002 | Human | 23557 | Details Get a Quote |
| SNAPIN Knockout A-549 Cell Line | EDJ-KQ24204 | Human | 23557 | Details Get a Quote |
| SNAPIN Knockout HCT 116 Cell Line | EDJ-KQ24205 | Human | 23557 | Details Get a Quote |
| SNAPIN Knockout HeLa Cell Line | EDJ-KQ24206 | Human | 23557 | Details Get a Quote |
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