Syntaxin 1a is potentially involved in docking of synaptic vesicles at presynaptic active zones and may play a critical role in neurotransmitter exocytosis. Haploinsufficiency of STX1A may be the cause of certain cardiovascular and musculo skeletal abnormalities observed in Williams-Beuren syndrome, a rare developmental disorder.
Function:
Potentially involved in docking of synaptic vesicles at presynaptic active zones. May play a critical role in neurotransmitter exocytosis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.
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 and LGI3. Interacts with SLC6A4. Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent (By similarity). Found in a complex with VAMP8 and SNAP23. Interacts with VAPA and SYBU.
Subcellular Location:
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type IV membrane protein. Cell junction, synapse, synaptosome. Isoform 2: Secreted (Probable).
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.
Post-translational modifications:
Phosphorylated by CK2.
DISEASE:
Note=STX1A is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Similarity:
Belongs to the syntaxin family.
Contains 1 t-SNARE coiled-coil homology domain
SWISS:
Q16623
Gene ID:
1364
Database links:
Entrez Gene: 1364 Human
Entrez Gene: 20907 Mouse
Entrez Gene: 116470 Rat
Omim: 186590 Human
SwissProt: P32850 Cow
SwissProt: Q16623 Human
SwissProt: O35526 Mouse
SwissProt: Q5R4L2 Orangutan
SwissProt: P32851 Rat
Unigene: 647024 Human
Unigene: 6225 Mouse
Unigene: 9943 Rat
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