ID P60880; PN Synaptosomal-associated protein 25; GN SNAP25; OS 9606; SL Nucleus Position: SL-0198; SL Comments: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P60879}. Cell membrane {ECO:0000250|UniProtKB:P60881}; Lipid-anchor {ECO:0000250|UniProtKB:P60879}. Synapse, synaptosome {ECO:0000250|UniProtKB:P60879}. Photoreceptor inner segment {ECO:0000250|UniProtKB:P60879}. Note=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). {ECO:0000250|UniProtKB:P60879, ECO:0000250|UniProtKB:P60881}. DR UNIPROT: P60880; DR UNIPROT: B2RAU4; DR UNIPROT: D3DW16; DR UNIPROT: D3DW17; DR UNIPROT: P13795; DR UNIPROT: P36974; DR UNIPROT: P70557; DR UNIPROT: P70558; DR UNIPROT: Q53EM2; DR UNIPROT: Q5U0B5; DR UNIPROT: Q8IXK3; DR UNIPROT: Q96FM2; DR UNIPROT: Q9BR45; DR PDB: 1KIL; DR PDB: 1XTG; DR PDB: 2N1T; DR PDB: 3DDA; DR PDB: 3DDB; DR PDB: 3RK2; DR PDB: 3RK3; DR PDB: 3RL0; DR PDB: 3ZUR; DR PDB: 5W7I; DR PDB: 5W7J; DR PDB: 6JLH; DR Pfam: PF00835; DR PROSITE: PS50192; DR OMIM: 600322; DR OMIM: 616330; DR DisGeNET: 6616; DE Function: 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. {ECO:0000250|UniProtKB:P60881}. DE Disease: Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330]: 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. {ECO:0000269|PubMed:25381298}. Note=The disease is caused by variants affecting the gene represented in this entry. DE Reference Proteome: Yes; DE Interaction: P00533; IntAct: EBI-4397510; Score: 0.55 DE Interaction: P04406; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P0DTD1; IntAct: EBI-26952878; Score: 0.56 DE Interaction: Q8IUH5; IntAct: EBI-524783; Score: 0.49 DE Interaction: Q16623; IntAct: EBI-26578093; Score: 0.55 DE Interaction: O75558; IntAct: EBI-24362633; Score: 0.56 DE Interaction: Q7Z6L0; IntAct: EBI-735805; Score: 0.00 DE Interaction: Q15811; IntAct: EBI-8589666; Score: 0.35 DE Interaction: P63041; IntAct: EBI-1032873; Score: 0.40 DE Interaction: Q62668; IntAct: EBI-1633551; Score: 0.35 DE Interaction: A0A8I3MJW7; IntAct: EBI-1633551; Score: 0.35 DE Interaction: Q9Y3C0; IntAct: EBI-2350431; Score: 0.49 DE Interaction: P42858; IntAct: EBI-25947049; Score: 0.56 DE Interaction: Q13360; IntAct: EBI-24670770; Score: 0.56 DE Interaction: Q9BRT2; IntAct: EBI-24783513; Score: 0.56 DE Interaction: Q8N4C7; IntAct: EBI-25157949; Score: 0.56 DE Interaction: Q9UHK0; IntAct: EBI-21549449; Score: 0.35 DE Interaction: Q16854; IntAct: EBI-21603108; Score: 0.35 DE Interaction: Q9NVR5; IntAct: EBI-21603625; Score: 0.35 DE Interaction: Q00496; IntAct: EBI-15556226; Score: 0.44 DE Interaction: P32851; IntAct: EBI-15937576; Score: 0.74 DE Interaction: P61765; IntAct: EBI-15623390; Score: 0.40 DE Interaction: P63045; IntAct: EBI-15623390; Score: 0.40 DE Interaction: O14810; IntAct: EBI-15937521; Score: 0.73 DE Interaction: P60880; IntAct: EBI-15937576; Score: 0.66 DE Interaction: P63027; IntAct: EBI-15937576; Score: 0.76 DE Interaction: P37840; IntAct: EBI-21013481; Score: 0.50 DE Interaction: O95183; IntAct: EBI-21267749; Score: 0.35 DE Interaction: P0DTC3; IntAct: EBI-25686340; Score: 0.35 DE Interaction: P0DTD8; IntAct: EBI-25687199; Score: 0.35 DE Interaction: Q7TFA1; IntAct: EBI-25688644; Score: 0.35 DE Interaction: P61278; IntAct: EBI-26494704; Score: 0.35 DE Interaction: Q9NRW1; IntAct: EBI-26578093; Score: 0.35 DE Interaction: Q13642; IntAct: EBI-26578093; Score: 0.35 DE Interaction: Q9UL88; IntAct: EBI-26578093; Score: 0.35 DE Interaction: Q9NP29; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P05026; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P06576; IntAct: EBI-26578093; Score: 0.35 DE Interaction: Q59EP4; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P46821; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P25705; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P62820; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P60601; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P84077; IntAct: EBI-26578093; Score: 0.51 DE Interaction: P11142; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P61421; IntAct: EBI-26578093; Score: 0.35 DE Interaction: Q15904; IntAct: EBI-26578093; Score: 0.35 DE Interaction: Q9H313; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P36542; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P20336; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P55072; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P17600; IntAct: EBI-26578093; Score: 0.35 DE Interaction: O95721; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P61764; IntAct: EBI-26578093; Score: 0.53 DE Interaction: P46459; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P23763; IntAct: EBI-26578093; Score: 0.35 DE Interaction: Q6PUV4; IntAct: EBI-26578093; Score: 0.35 DE Interaction: Q86Y82; IntAct: EBI-26578093; Score: 0.35 DE Interaction: O15400; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P21579; IntAct: EBI-26578093; Score: 0.35 DE Interaction: P61266; IntAct: EBI-26578093; Score: 0.35 DE Interaction: Q99719; IntAct: EBI-26578142; Score: 0.35 DE Interaction: F1PAA9; IntAct: EBI-27079701; Score: 0.27 GO GO:0070161; GO GO:0005737; GO GO:0005856; GO GO:0005829; GO GO:0031234; GO GO:0098978; GO GO:0030426; GO GO:0016020; GO GO:0043005; GO GO:0048471; GO GO:0001917; GO GO:0005886; GO GO:0098794; GO GO:0042734; GO GO:0097470; GO GO:0031201; GO GO:0036477; GO GO:0035579; GO GO:0008021; GO GO:0070032; GO GO:0070821; GO GO:0005802; GO GO:0048306; GO GO:0008289; GO GO:0060090; GO GO:0005484; GO GO:0019905; GO GO:0017075; GO GO:0005249; GO GO:0008306; GO GO:0007268; GO GO:0098967; GO GO:0006887; GO GO:0051179; GO GO:0007626; GO GO:0060291; GO GO:0099590; GO GO:0001504; GO GO:0050796; GO GO:0010975; GO GO:0016081; GO GO:0016079; GO GO:0031629; GO GO:0016082; GO GO:0006906; TP Membrane Topology: Lipid-Anchored; Source: UniProt - By Similarity {ECO:0000250|UniProtKB:P60879}; SQ MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTD SQ LGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNL SQ RHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG //