STX1B
Summary: The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| syntaxin 1B | MIM:601485 | Ensembl:ENSG00000099365 | HGNC:HGNC:18539 | PA38345 | 16p11.2 |
GO terms in STX1B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0000149 | SNARE binding |
| MF | IEA | GO:0005102 | signaling receptor binding |
| MF | IBA | GO:0005484 | SNAP receptor activity |
| MF | ISS | GO:0019901 | protein kinase binding |
| MF | IEA | GO:0019904 | protein domain specific binding |
| CC | IEA | GO:0005634 | nucleus |
| CC | IEA | GO:0005815 | microtubule organizing center |
| CC | IEA | GO:0005819 | spindle |
| CC | TAS | GO:0005829 | cytosol |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0008021 | synaptic vesicle |
| CC | IBA | GO:0012505 | endomembrane system |
| CC | ISS | GO:0016020 | membrane |
| CC | IBA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0030424 | axon |
| CC | IBA | GO:0031201 | SNARE complex |
| CC | IBA | GO:0042734 | presynaptic membrane |
| CC | IBA | GO:0048787 | presynaptic active zone membrane |
| CC | IEA | GO:0048787 | presynaptic active zone membrane |
| BP | ISS | GO:0001956 | positive regulation of neurotransmitter secretion |
| BP | IBA | GO:0006886 | intracellular protein transport |
| BP | IBA | GO:0006887 | exocytosis |
| BP | ISS | GO:0006904 | vesicle docking involved in exocytosis |
| BP | IBA | GO:0006906 | vesicle fusion |
| BP | ISS | GO:0010468 | regulation of gene expression |
| BP | ISS | GO:0010807 | regulation of synaptic vesicle priming |
| BP | ISS | GO:0010977 | negative regulation of neuron projection development |
| BP | ISS | GO:0016081 | synaptic vesicle docking |
| BP | IBA | GO:0031629 | synaptic vesicle fusion to presynaptic active zone membrane |
| BP | IBA | GO:0048278 | vesicle docking |
| BP | IEA | GO:0048791 | calcium ion-regulated exocytosis of neurotransmitter |
| BP | ISS | GO:0060025 | regulation of synaptic activity |
| BP | IEA | GO:0061669 | spontaneous neurotransmitter secretion |
| BP | IBA | GO:0098967 | exocytic insertion of neurotransmitter receptor to postsynaptic membrane |
| BP | IEA | GO:0098967 | exocytic insertion of neurotransmitter receptor to postsynaptic membrane |
| BP | IEA | GO:1903422 | negative regulation of synaptic vesicle recycling |
| BP | IEA | GO:1904050 | positive regulation of spontaneous neurotransmitter secretion |
| BP | ISS | GO:1905302 | negative regulation of macropinocytosis |
| BP | ISS | GO:2000463 | positive regulation of excitatory postsynaptic potential |
Gene expression in normal tissue: STX1B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in STX1B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-168799 | Neurotoxicity of clostridium toxins |
| reactome | R-HSA-5250971 | Toxicity of botulinum toxin type C (BoNT/C) |
| reactome | R-HSA-5339562 | Uptake and actions of bacterial toxins |
| reactome | R-HSA-5663205 | Infectious disease |
| reactome | R-HSA-5682910 | LGI-ADAM interactions |
| pharmgkb | PA162355621 | Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics |
| kegg | hsa04130 | SNARE interactions in vesicular transport - Homo sapiens (human) |
| kegg | hsa04721 | Synaptic vesicle cycle - Homo sapiens (human) |
| wikipathways | WP2267 | Synaptic Vesicle Pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in STX1B
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