Aliases for STX1A Gene
External Ids for STX1A Gene
Previous HGNC Symbols for STX1A Gene
Previous GeneCards Identifiers for STX1A Gene
This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
GeneCards Summary for STX1A Gene
STX1A (Syntaxin 1A) is a Protein Coding gene. Diseases associated with STX1A include Cystic Fibrosis and Leukodystrophy, Hypomyelinating, 6. Among its related pathways are Protein-protein interactions at synapses and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and protein N-terminus binding. An important paralog of this gene is STX1B.
UniProtKB/Swiss-Prot Summary for STX1A Gene
Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the formation of the SNARE complex, which brings membranes into close proximity and results in final fusion. Participates in the calcium-dependent regulation of acrosomal exocytosis in sperm (PubMed:23091057). Plays also an important role in the exocytosis of hormones such as insulin or glucagon-like peptide 1 (GLP-1) (By similarity).