Recombinant Human Syntaxin-binding protein 1 (STXBP1)

Uniprot Id

P61764

Target Species

Human

Target Name

STXBP1

Target Full Name

Syntaxin-binding protein 1

Target Function

Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions.

Target Involvement

Epileptic encephalopathy, early infantile, 4 (EIEE4)

Target Subcellular Location

Cytoplasm, cytosol. Membrane; Peripheral membrane protein.

Target Protein Families

STXBP/unc-18/SEC1 family

Target Tissue Specificity

Brain and spinal cord. Highly enriched in axons.

Target Research Area

Cancer, Transport

Target Synonyms

FLJ37475; Munc 18 1; Munc 18a; MUNC18 1; N-Sec1; Neuronal SEC1; NSec1; p67; Protein unc-18 homolog 1; Protein unc-18 homolog A; Rb sec1; RBSEC1; STXB1_HUMAN; STXBP1; Syntaxin binding protein 1; Syntaxin-binding protein 1; Unc 18 homolog; Unc 18A; Unc-18A; Unc18 1; UNC18; Unc18-1

Target Background

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described.