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 Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Synaptic vesicle cycle and Regulation of CFTR activity (norm and CF). 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 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.