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STXBP1

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For Research Use Only. Not For Clinical Use.


Enables syntaxin-1 binding activity. Involved in synaptic vesicle priming and vesicle docking involved in exocytosis. Acts upstream of or within several processes, including axon target recognition; chemical synaptic transmission; and negative regulation of synaptic transmission. Located in axon; phagocytic vesicle; and plasma membrane. Is active in several cellular components, including parallel fiber to Purkinje cell synapse; presynaptic active zone cytoplasmic component; and presynaptic cytosol. Is extrinsic component of presynaptic membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and sensory organ. Human ortholog(s) of this gene implicated in West syndrome and developmental and epileptic encephalopathy 4.
Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Cone photoreceptor cells, Rod photoreceptor cells, Bipolar cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (SCLC-21H, SK-MEL-30)

Interaction

Interacts with SYTL4 (By similarity). Interacts with STX1A (PubMed:12730201). Interacts with alpha-synuclein/SNCA; this interaction controls SNCA self-replicating aggregation (PubMed:27597756). Interacts with RAB3A; this interaction promotes RAB3A dissociation from the vesicle membrane (By similarity). Interacts with CABP5 (By similarity).

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