SCAMP5: Secretory Carrier Membrane Protein 5
A key regulator of synaptic vesicle trafficking and neurotransmitter release
Gene Information Card
| Symbol | SCAMP5 |
|---|---|
| Full Name | Secretory Carrier Membrane Protein 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 192683 ncbi.nlm.nih.gov/gene/192683 |
| Ensembl ID | ENSG00000198797 |
| UniProt ID | Q8TBY0 |
| OMIM ID | 613766 |
| HGNC ID | 30383 |
| Aliases | SCAMP5, SCAMP5a, SCAMP5b |
Description
SCAMP5 (Secretory Carrier Membrane Protein 5) encodes a member of the secretory carrier membrane protein family. These proteins are integral membrane proteins involved in membrane trafficking, particularly in the recycling of synaptic vesicles. SCAMP5 is highly expressed in the brain and plays a critical role in neurotransmitter release by regulating vesicle fusion and endocytosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 80 (EIEE80) | Loss-of-function mutations in SCAMP5 impair synaptic vesicle recycling, leading to neuronal hyperexcitability and seizures. | ClinVar, OMIM |
| Neurodevelopmental disorder with hypotonia and seizures | Homozygous or compound heterozygous mutations disrupt SCAMP5 function, causing developmental delay, hypotonia, and epilepsy. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | High |
| Testis | 3.1 | Low |
| Lung | 1.2 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | High expression; used in neuronal studies |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
| U-87 MG (glioblastoma) | 12.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function; associated with EIEE80 |
| c.344G>A (p.Arg115Gln) | Missense | Rare | Impaired protein stability; reported in neurodevelopmental disorder |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent SCAMP5 protein, impairing synaptic vesicle recycling.
Gain of Function (GOF)
No gain-of-function mutations reported for SCAMP5.
Dominant Negative (DN)
No dominant-negative mutations reported for SCAMP5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Synaptic vesicle cycle (Reactome: R-HSA-421837)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
SCAMP5 is a 338-amino acid integral membrane protein with four transmembrane domains. It localizes to synaptic vesicles and the plasma membrane, where it facilitates vesicle docking, fusion, and recycling. The protein contains a conserved N-terminal domain and a cytoplasmic C-terminal tail that interacts with endocytic machinery. SCAMP5 is essential for efficient neurotransmitter release and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SCAMP5 Knockout HEK293 Cell Line | EDJ-KQ15182 | Human | 192683 | Details Get a Quote |
| SCAMP5 Knockout A-549 Cell Line | EDJ-KQ47969 | Human | 192683 | Details Get a Quote |
| SCAMP5 Knockout HCT 116 Cell Line | EDJ-KQ47971 | Human | 192683 | Details Get a Quote |
| SCAMP5 Knockout HeLa Cell Line | EDJ-KQ47972 | Human | 192683 | Details Get a Quote |
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