STXBP1


Summary: 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. [provided by RefSeq, Feb 2010].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
syntaxin binding protein 1MIM:602926Ensembl:ENSG00000136854HGNC:HGNC:11444PA362419q34.11

GO terms in STXBP1


Term TypeEvidence TypeGO Term IDGO Des.
CCIDAGO:0005654nucleoplasm
CCISSGO:0005737cytoplasm
CCISSGO:0005739mitochondrion
CCIDAGO:0005829cytosol
CCTASGO:0005829cytosol
CCIEAGO:0005856cytoskeleton
CCIDAGO:0005886plasma membrane
CCISSGO:0005886plasma membrane
CCIEAGO:0030424axon
CCIDAGO:0031091platelet alpha granule
CCISSGO:0032991protein-containing complex
CCIEAGO:0043209myelin sheath
CCIEAGO:0045335phagocytic vesicle
CCIEAGO:0048471perinuclear region of cytoplasm
CCIEAGO:0048787presynaptic active zone membrane
CCHDAGO:0070062extracellular exosome
CCIEAGO:0098794postsynapse
BPIMPGO:0002576platelet degranulation
BPIEAGO:0003006developmental process involved in reproduction
BPISSGO:0006904vesicle docking involved in exocytosis
BPIEAGO:0007269neurotransmitter secretion
BPIEAGO:0007274neuromuscular synaptic transmission
BPISSGO:0007412axon target recognition
BPISSGO:0010807regulation of synaptic vesicle priming
BPIEAGO:0015031protein transport
BPISSGO:0016188synaptic vesicle maturation
BPIEAGO:0031333negative regulation of protein complex assembly
BPTASGO:0031630regulation of synaptic vesicle fusion to presynaptic active zone membrane
BPISSGO:0032229negative regulation of synaptic transmission, GABAergic
BPIEAGO:0032355response to estradiol
BPTASGO:0035542regulation of SNARE complex assembly
BPIEAGO:0043306positive regulation of mast cell degranulation
BPIEAGO:0043524negative regulation of neuron apoptotic process
BPIEAGO:0045956positive regulation of calcium ion-dependent exocytosis
BPIEAGO:0050821protein stabilization
BPIEAGO:0060292long term synaptic depression
BPIMPGO:0070527platelet aggregation
BPIEAGO:0071346cellular response to interferon-gamma
BPIDAGO:0072659protein localization to plasma membrane
BPIEAGO:0099525presynaptic dense core vesicle exocytosis
BPIEAGO:0106022positive regulation of vesicle docking
BPIEAGO:1903296positive regulation of glutamate secretion, neurotransmission
MFISSGO:0000149SNARE binding
MFHDAGO:0003723RNA binding
MFIPIGO:0005515protein binding
MFIPIGO:0017075syntaxin-1 binding
MFISSGO:0017075syntaxin-1 binding
MFIEAGO:0019901protein kinase binding
MFIEAGO:0019904protein domain specific binding
MFIPIGO:0019905syntaxin binding
MFISSGO:0042802identical protein binding
MFIEAGO:0043274phospholipase binding
MFIEAGO:0047485protein N-terminus binding

Gene expression in normal tissue: STXBP1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in STXBP1


DatabasePathway IDPathway Des.
reactomeR-HSA-112310Neurotransmitter release cycle
reactomeR-HSA-112315Transmission across Chemical Synapses
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-1430728Metabolism
reactomeR-HSA-163685Integration of energy metabolism
reactomeR-HSA-181429Serotonin Neurotransmitter Release Cycle
reactomeR-HSA-181430Norepinephrine Neurotransmitter Release Cycle
reactomeR-HSA-210500Glutamate Neurotransmitter Release Cycle
reactomeR-HSA-212676Dopamine Neurotransmitter Release Cycle
reactomeR-HSA-264642Acetylcholine Neurotransmitter Release Cycle
reactomeR-HSA-422356Regulation of insulin secretion
reactomeR-HSA-6794361Neurexins and neuroligins
reactomeR-HSA-6794362Protein-protein interactions at synapses
reactomeR-HSA-888590GABA synthesis, release, reuptake and degradation
wikipathwaysWP2267Synaptic Vesicle Pathway
wikipathwaysWP437EGF-EGFR Signaling Pathway
wikipathwaysWP481Insulin Signaling
kegghsa04721Synaptic vesicle cycle - Homo sapiens (human)
pidbotulinumtoxinpathwayEffects of Botulinum toxin

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD409Saracatinib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in STXBP1

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