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MGP003018

UniProt Annotations

Entry Information
Gene Namesyntaxin binding protein 1
Protein EntrySTXB1_HUMAN
UniProt IDP61764
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; Synonyms=A; IsoId=P61764-1, Q64320-1; Sequence=Displayed; Name=2; Synonyms=BE, HUNC18b; IsoId=P61764-2, Q64320-2; Sequence=VSP_006713;
DiseaseEpileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164]: 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 mental retardation, and MRI evidence of brain hypomyelination. {ECO:0000269|PubMed:18469812, ECO:0000269|PubMed:24623842}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMay participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. 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.
SimilarityBelongs to the STXBP/unc-18/SEC1 family. {ECO:0000305}.
Subcellular LocationCytoplasm. Membrane; Peripheral membrane protein.
SubunitBinds SYTL4 (By similarity). Interacts with STX1A. {ECO:0000250, ECO:0000269|PubMed:12730201}.
Tissue SpecificityBrain and spinal cord. Highly enriched in axons.
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