SNAP25 ist ein Gen, das durch das Symbol SNAP25 kodiert wird. Es ist auch bekannt als: Synaptosomal-associated protein 25; SNAP-25; Super protein; SUP; Synaptosomal-associated 25 kDa protein; SNAP. SNAP25 hat eine Masse von 23.32kDa, eine Aminosäurelänge von 206, und ist an Myasthenic syndrome, congenital, 18 beteiligt.
Wir bieten 11 antikörper gegen SNAP25, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus, Ratte, Schwein und Hamster.
Gen- und Proteininformationen
UniProt Zusammenfassung
t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasma membrane recycling through its interaction with CENPF. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 in pancreatic beta cells.
Entrez Zusammenfassung
Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene.
Gewebespezifität
Neurons of the neocortex, hippocampus, piriform cortex, anterior thalamic nuclei, pontine nuclei, and granule cells of the cerebellum.
Rolle bei Krankheiten
Myasthenic syndrome, congenital, 18: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS18 is an autosomal dominant presynaptic disorder clinically characterized by early-onset muscle weakness and easy fatigability associated with delayed psychomotor development and ataxia.
Sequenzähnlichkeiten
Belongs to the SNAP-25 family.
Posttranslationale Modifikation
Palmitoylated (PubMed:28757145). Cys-85 appears to be the main site, and palmitoylation is required for membrane association (By similarity).
Zellort
Cytoplasm > Perinuclear region. Cell membrane. Cell junction > Synapse > Synaptosome. Photoreceptor inner segment.
Membrane association requires palmitoylation. Expressed throughout cytoplasm, concentrating at the perinuclear region. Colocalizes with KCNB1 at the cell membrane (By similarity). Colocalizes with PLCL1 at the cell membrane (By similarity).
