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 (Brain)) is a Protein Coding gene. Diseases associated with STX1A include cystic fibrosis and autosomal dominant non-syndromic intellectual disability. Among its related pathways are Developmental Biology and Infectious disease. GO annotations related to this gene include protein heterodimerization activity and protein N-terminus binding. An important paralog of this gene is STX4.
UniProtKB/Swiss-Prot for STX1A Gene
Plays a role in hormone and neurotransmitter exocytosis (By similarity). Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm.