disease:Haploinsufficiency of STX1A may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS), a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.,function:Potentially involved in docking of synaptic vesicles at presynaptic active zones. May play a critical role in neurotransmitter exocytosis.,similarity:Belongs to the syntaxin family.,similarity:Contains 1 t-SNARE coiled-coil homology domain.,subunit:Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A. This complex binds to CPLX1. Binds SYTL4 and STXBP6. Found in a ternary complex with STX1A and SNAP25. Interacts with OTOF (By similarity). Found in a complex with VAMP8 and SNAP23. Interacts with VAPA and SYBU.,tissue specificity:Isoform 1 is highly expressed in embryonic spinal chord and ganglia and in adult cerebellum and cerebral cortex. Isoform 2 is expressed in heart, liver, fat, skeletal muscle, kidney and brain.,
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass type IV membrane protein . Cell junction, synapse, synaptosome . Cell membrane . Colocalizes with KCNB1 at the cell membrane. .; [Isoform 2]: Secreted .
[Isoform 1]: Highly expressed in embryonic spinal cord and ganglia and in adult cerebellum and cerebral cortex. ; [Isoform 2]: Expressed in heart, liver, fat, skeletal muscle, kidney and brain.
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