STXBP1

STXBP1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3PUJ
Identifiers
Aliases	STXBP1, MUNC18-1, NSEC1, P67, RBSEC1, UNC18, syntaxin binding protein 1
External IDs	OMIM: 602926; MGI: 107363; HomoloGene: 2382; GeneCards: STXBP1; OMA:STXBP1 - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	127,696,027 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	32,737,257 bp
RNA expression pattern
	Top expressed in
	middle temporal gyrus; ; lateral nuclear group of thalamus; ; Brodmann area 23; ; Pons; ; superior frontal gyrus; ; primary visual cortex; ; right hemisphere of cerebellum; ; pars compacta; ; postcentral gyrus; ; paraflocculus of cerebellum;
	Top expressed in
	neural layer of retina; ; pontine nuclei; ; inferior colliculi; ; perirhinal cortex; ; superior colliculus; ; central gray substance of midbrain; ; piriform cortex; ; Medulla Oblongata; ; cerebellar cortex; ; medial vestibular nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein domain specific binding; protein N-terminus binding; syntaxin-1 binding; protein binding; identical protein binding; syntaxin binding; protein kinase binding; SNARE binding; RNA binding; phospholipase binding;
Cellular component	platelet alpha granule; membrane; myelin sheath; plasma membrane; nucleoplasm; terminal bouton; mitochondrion; extracellular exosome; cytoplasm; cytosol; presynaptic active zone membrane; nucleus; cytoskeleton; axon; perinuclear region of cytoplasm; presynapse; postsynapse; protein-containing complex; phagocytic vesicle; glutamatergic synapse;
Biological process	negative regulation of neuron apoptotic process; exocytosis; axon target recognition; protein stabilization; platelet degranulation; positive regulation of calcium ion-dependent exocytosis; glutamate secretion; regulation of synaptic vesicle fusion to presynaptic active zone membrane; neuromuscular synaptic transmission; negative regulation of synaptic transmission, GABAergic; long-term depression; protein transport; positive regulation of exocytosis; protein localization to plasma membrane; platelet aggregation; regulation of SNARE complex assembly; synaptic vesicle maturation; vesicle-mediated transport; neurotransmitter secretion; regulation of synaptic vesicle priming; vesicle docking involved in exocytosis; negative regulation of protein-containing complex assembly; presynaptic dense core vesicle exocytosis; developmental process involved in reproduction; regulation of vesicle fusion; response to estradiol; positive regulation of mast cell degranulation; positive regulation of vesicle docking; positive regulation of glutamate secretion, neurotransmission; transport; synaptic vesicle priming; cellular response to interferon-gamma; SNARE complex assembly; regulation of acrosomal vesicle exocytosis;
	Sources:Amigo / QuickGO
Orthologs
	6812
	20910
	ENSG00000136854
	ENSMUSG00000026797
	P61764
	O08599
	NM_003165; NM_001032221
	NM_001113569; NM_009295
NP_001027392; NP_003156; NP_001361235; NP_001361236; NP_001361237;
	NP_001361238; NP_001361239; NP_001361240; NP_001361241; NP_001361242; NP_001361243; NP_001361244
	NP_001107041; NP_033321
	Wikidata
View/Edit Human	View/Edit Mouse

Syntaxin-binding protein 1 (also known as Munc18-1) is a protein that in humans is encoded by the STXBP1 gene. 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 neurological disorders including epilepsy, intellectual disability, and movement disorders.