STXBP1

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described.

syntaxin binding protein 1

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. May play a role in determining the specificity of intracellular fusion reactions.

Biological Process axon target recognitionISS:UniProtKB
Biological Process cellular response to interferon-gammaIEA:Ensembl
Biological Process developmental process involved in reproductionIEA:Ensembl
Biological Process intracellular protein transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process long-term synaptic depressionIEA:Ensembl
Biological Process negative regulation of neuron apoptotic processIEA:Ensembl
Biological Process negative regulation of protein-containing complex assemblyIEA:Ensembl
Biological Process negative regulation of synaptic transmission, GABAergicISS:UniProtKB
Biological Process neuromuscular synaptic transmissionIEA:Ensembl
Biological Process neuron apoptotic processIEA:Ensembl
Biological Process neurotransmitter secretionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process platelet aggregationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process platelet degranulationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of calcium ion-dependent exocytosisIEA:Ensembl
Biological Process positive regulation of glutamate secretion, neurotransmissionIEA:Ensembl
Biological Process positive regulation of mast cell degranulationIEA:Ensembl
Biological Process positive regulation of vesicle dockingIEA:Ensembl
Biological Process presynaptic dense core vesicle exocytosisIEA:Ensembl
Biological Process protein localization to plasma membraneManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process protein stabilizationIEA:Ensembl
Biological Process regulation of acrosomal vesicle exocytosisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of SNARE complex assemblyManual Assertion Based On ExperimentTAS:ParkinsonsUK-UCL
Biological Process regulation of synaptic vesicle fusion to presynaptic active zone membraneManual Assertion Based On ExperimentTAS:ParkinsonsUK-UCL
Biological Process regulation of synaptic vesicle primingISS:UniProtKB
Biological Process response to estradiolIEA:Ensembl
Biological Process SNARE complex assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process synaptic vesicle maturationISS:UniProtKB
Biological Process synaptic vesicle primingIEA:Ensembl
Biological Process vesicle docking involved in exocytosisISS:ParkinsonsUK-UCL
Biological Process vesicle-mediated transportManual Assertion Based On ExperimentIBA:GO_Central

Cytoplasm, cytosol
Membrane

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.