syntaxin-binding protein 1; protein unc-18 homolog 1; Unc18-1; protein unc-18 homolog A; Unc-18A; N-sec1; p67 (STXBP1, UNC18A)

Function

• may participate in the regulation of synaptic vesicle docking & fusion, possibly through interaction with GTP-binding proteins
• essential for neurotransmission
• binds syntaxin, a component of the synaptic vesicle fusion
• can interact with syntaxins 1, 2, & 3 but not syntaxin 4
• may play a role in determining the specificity of intracellular fusion reactions
• binds SYTL4 & STX1A (putative)

Structure

belongs to the STXBP/unc-18/SEC1 family

Compartment

• cytoplasm, membrane; peripheral membrane protein

Alternative splicing

named isoforms=2

Expression

• brain & spinal cord
• highly enriched in axons

Pathology

• defects in STXBP1 are the cause of early infantile epileptic encephalopathy type 4

More general terms

• UNC-18 homolog or syntaxin binding protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6812
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6812
• OMIM: https://mirror.omim.org/entry/602926
• OMIM: https://mirror.omim.org/entry/612164
• UniProt: http://www.uniprot.org/uniprot/P61764.html