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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| syntaxin binding protein 1 | MIM:602926 | Ensembl:ENSG00000136854 | HGNC:HGNC:11444 | PA36241 | 9q34.11 |
GO terms in STXBP1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0005856 | cytoskeleton |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0030424 | axon |
| CC | IDA | GO:0031091 | platelet alpha granule |
| CC | ISS | GO:0032991 | protein-containing complex |
| CC | IEA | GO:0043209 | myelin sheath |
| CC | IEA | GO:0045335 | phagocytic vesicle |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
| CC | IEA | GO:0048787 | presynaptic active zone membrane |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IEA | GO:0098794 | postsynapse |
| BP | IMP | GO:0002576 | platelet degranulation |
| BP | IEA | GO:0003006 | developmental process involved in reproduction |
| BP | ISS | GO:0006904 | vesicle docking involved in exocytosis |
| BP | IEA | GO:0007269 | neurotransmitter secretion |
| BP | IEA | GO:0007274 | neuromuscular synaptic transmission |
| BP | ISS | GO:0007412 | axon target recognition |
| BP | ISS | GO:0010807 | regulation of synaptic vesicle priming |
| BP | IEA | GO:0015031 | protein transport |
| BP | ISS | GO:0016188 | synaptic vesicle maturation |
| BP | IEA | GO:0031333 | negative regulation of protein complex assembly |
| BP | TAS | GO:0031630 | regulation of synaptic vesicle fusion to presynaptic active zone membrane |
| BP | ISS | GO:0032229 | negative regulation of synaptic transmission, GABAergic |
| BP | IEA | GO:0032355 | response to estradiol |
| BP | TAS | GO:0035542 | regulation of SNARE complex assembly |
| BP | IEA | GO:0043306 | positive regulation of mast cell degranulation |
| BP | IEA | GO:0043524 | negative regulation of neuron apoptotic process |
| BP | IEA | GO:0045956 | positive regulation of calcium ion-dependent exocytosis |
| BP | IEA | GO:0050821 | protein stabilization |
| BP | IEA | GO:0060292 | long term synaptic depression |
| BP | IMP | GO:0070527 | platelet aggregation |
| BP | IEA | GO:0071346 | cellular response to interferon-gamma |
| BP | IDA | GO:0072659 | protein localization to plasma membrane |
| BP | IEA | GO:0099525 | presynaptic dense core vesicle exocytosis |
| BP | IEA | GO:0106022 | positive regulation of vesicle docking |
| BP | IEA | GO:1903296 | positive regulation of glutamate secretion, neurotransmission |
| MF | ISS | GO:0000149 | SNARE binding |
| MF | HDA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0017075 | syntaxin-1 binding |
| MF | ISS | GO:0017075 | syntaxin-1 binding |
| MF | IEA | GO:0019901 | protein kinase binding |
| MF | IEA | GO:0019904 | protein domain specific binding |
| MF | IPI | GO:0019905 | syntaxin binding |
| MF | ISS | GO:0042802 | identical protein binding |
| MF | IEA | GO:0043274 | phospholipase binding |
| MF | IEA | GO:0047485 | protein N-terminus binding |
Gene expression in normal tissue: STXBP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in STXBP1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112310 | Neurotransmitter release cycle |
| reactome | R-HSA-112315 | Transmission across Chemical Synapses |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-163685 | Integration of energy metabolism |
| reactome | R-HSA-181429 | Serotonin Neurotransmitter Release Cycle |
| reactome | R-HSA-181430 | Norepinephrine Neurotransmitter Release Cycle |
| reactome | R-HSA-210500 | Glutamate Neurotransmitter Release Cycle |
| reactome | R-HSA-212676 | Dopamine Neurotransmitter Release Cycle |
| reactome | R-HSA-264642 | Acetylcholine Neurotransmitter Release Cycle |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
| reactome | R-HSA-888590 | GABA synthesis, release, reuptake and degradation |
| wikipathways | WP2267 | Synaptic Vesicle Pathway |
| wikipathways | WP437 | EGF-EGFR Signaling Pathway |
| wikipathways | WP481 | Insulin Signaling |
| kegg | hsa04721 | Synaptic vesicle cycle - Homo sapiens (human) |
| pid | botulinumtoxinpathway | Effects of Botulinum toxin |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in STXBP1
CLASSFICATION
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