STXBP1 phospho S313
Function
Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. Involved in the release of neurotransmitters from neurons through interacting with SNARE complex component STX1A and mediating the assembly of the SNARE complex at synaptic membranes (By similarity). May play a role in determining the specificity of intracellular fusion reactions.
Involvement in disease
Developmental and epileptic encephalopathy 4
DEE4
A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound intellectual disability, and MRI evidence of brain hypomyelination.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the STXBP/unc-18/SEC1 family.
Tissue Specificity
Brain and spinal cord. Highly enriched in axons.
Cellular localization
- Cytoplasm
- Cytosol
- Membrane
- Peripheral membrane protein
Alternative names
UNC18A, STXBP1, Syntaxin-binding protein 1, MUNC18-1, N-Sec1, Protein unc-18 homolog 1, Protein unc-18 homolog A, p67, Unc18-1, Unc-18A