STX1B

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.

Syntaxin 1B

Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca2+-regulation of exocytosis acrosomal reaction in sperm (By similarity).

Biological Process calcium ion-regulated exocytosis of neurotransmitterIEA:Ensembl
Biological Process exocytic insertion of neurotransmitter receptor to postsynaptic membraneManual Assertion Based On ExperimentIBA:GO_Central
Biological Process exocytosisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process intracellular protein transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of macropinocytosisISS:ParkinsonsUK-UCL
Biological Process negative regulation of neuron projection developmentISS:ParkinsonsUK-UCL
Biological Process negative regulation of synaptic vesicle recyclingIEA:Ensembl
Biological Process positive regulation of excitatory postsynaptic potentialISS:ParkinsonsUK-UCL
Biological Process positive regulation of neurotransmitter secretionISS:ParkinsonsUK-UCL
Biological Process positive regulation of spontaneous neurotransmitter secretionIEA:Ensembl
Biological Process regulation of exocytosisIEA:InterPro
Biological Process regulation of gene expressionISS:ParkinsonsUK-UCL
Biological Process regulation of synaptic activityISS:ParkinsonsUK-UCL
Biological Process regulation of synaptic vesicle primingISS:ParkinsonsUK-UCL
Biological Process spontaneous neurotransmitter secretionIEA:Ensembl
Biological Process synaptic vesicle dockingISS:ParkinsonsUK-UCL
Biological Process synaptic vesicle fusion to presynaptic active zone membraneManual Assertion Based On ExperimentIBA:GO_Central
Biological Process vesicle dockingManual Assertion Based On ExperimentIBA:GO_Central
Biological Process vesicle docking involved in exocytosisISS:ParkinsonsUK-UCL
Biological Process vesicle fusionManual Assertion Based On ExperimentIBA:GO_Central

Isoform 1
Membrane
Isoform 2
Nucleus
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
Cytoplasm, cytoskeleton, spindle
Colocalizes with Lamin A/C and NuMA in interphasic nuclei, and with NuMA and gamma-tubulin in the pericentrosomal region of the mitotic spindle in dividing cells.

Generalized epilepsy with febrile seizures plus 9 (GEFSP9):
An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities.

Cytoplasmic: 1-264
Helical: 265-288

Phosphorylated by CK2.