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MGP003016

UniProt Annotations

Entry Information
Gene Namesyntaxin 1A (brain)
Protein EntrySTX1A_HUMAN
UniProt IDQ16623
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q16623-1; Sequence=Displayed; Name=2; Synonyms=1C; IsoId=Q16623-2; Sequence=VSP_006338; Note=Expression is up-regulated by phorbol 12-myristate 13-acetate (PMA), but not by forskolin.; Name=3; IsoId=Q16623-3; Sequence=VSP_006339;
DiseaseNote=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.
FunctionPotentially 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.
PtmPhosphorylated by CK2 (By similarity). Phosphorylation at Ser-188 by DAPK1 significantly decreases its interaction with STXBP1. {ECO:0000250, ECO:0000269|PubMed:12730201, ECO:0000269|PubMed:15822905}.
Sequence CautionSequence=AAA20940.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the syntaxin family. {ECO:0000305}.
SimilarityContains 1 t-SNARE coiled-coil homology domain. {ECO:0000255|PROSITE-ProRule:PRU00202}.
Subcellular LocationCytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}.
Subcellular LocationIsoform 2: Secreted {ECO:0000305}.
SubunitPart 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. Interacts with STXBP1 and DAPK1. {ECO:0000250, ECO:0000269|PubMed:12130530, ECO:0000269|PubMed:12730201, ECO:0000269|PubMed:15459722}.
Tissue SpecificityIsoform 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. {ECO:0000269|PubMed:10644452}.
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