SNAP25
entrez
6616
canonical
uniprot
P60880
canonical
ensembl
ENSG00000132639
resolver
ensp
ENSP00000254976
resolver
ensp
ENSP00000307341
resolver
ensp
ENSP00000508541
resolver
ensp
ENSP00000509759
resolver
ensp
ENSP00000510109
resolver
ensp
ENSP00000510219
resolver
ensp
ENSP00000510558
resolver
ensp
ENSP00000510663
resolver
ensp
ENSP00000516314
resolver
ensp
ENSP00000526506
resolver
ensp
ENSP00000526508
resolver
ensp
ENSP00000526509
resolver
ensp
ENSP00000526510
resolver
ensp
ENSP00000526511
resolver
genesymbol
SNAP25
resolver
genesymbol_syn
SNAP
resolver
hgnc
HGNC:11132
resolver
uniprot
B2RAU4
resolver
uniprot
D3DW16
resolver
uniprot
D3DW17
resolver
uniprot
P13795
resolver
uniprot
P36974
resolver
uniprot
P70557
resolver
uniprot
P70558
resolver
uniprot
Q53EM2
resolver
uniprot
Q5U0B5
resolver
uniprot
Q8IXK3
resolver
uniprot
Q96FM2
resolver
uniprot
Q9BR45
resolver
uniprot_entry
SNP25_HUMAN
resolver
uniprot_sec
B2RAU4
resolver
uniprot_sec
D3DW16
resolver
uniprot_sec
D3DW17
resolver
uniprot_sec
P13795
resolver
uniprot_sec
P36974
resolver
uniprot_sec
P70557
resolver
uniprot_sec
P70558
resolver
uniprot_sec
Q53EM2
resolver
uniprot_sec
Q5U0B5
resolver
uniprot_sec
Q8IXK3
resolver
uniprot_sec
Q96FM2
resolver
uniprot_sec
Q9BR45
resolver
amino_acid_sequence
MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERIEEGMDQINKDMKEAEKNLTDLGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARVVDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNLRHMALDMGNEIDTQNRQIDRIMEKADSNKTRIDEANQRATKMLGSG
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 117 (DEE117) [MIM:616330]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE117 is an autosomal dominant form characterized by global developmental delay, delayed walking or inability to walk, intellectual disability, and early-onset seizures. Variable neurological symptoms are muscular hypotonia, movement disorders (ataxia, dystonia or tremor), cerebral visual impairment, and brain volume loss. {ECO:0000269|PubMed:25381298}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
23315
uniprot
proteins
mutagenesis
MUTAGEN 112; /note="V->A: Mildly decreased binding affinity for ZDHHC17."; /evidence="ECO:0000269|PubMed:28757145"; MUTAGEN 113; /note="V->A: Mildly decreased binding affinity for ZDHHC17."; /evidence="ECO:0000269|PubMed:28757145"; MUTAGEN 115; /note="S->A: No effect on ZDHHC17 binding."; /evidence="ECO:0000269|PubMed:28757145"; MUTAGEN 116; /note="Q->A: Decreased binding affinity for ZDHHC17."; /evidence="ECO:0000269|PubMed:28757145"; MUTAGEN 117; /note="P->A: Decreased binding affinity for ZDHHC17."; /evidence="ECO:0000269|PubMed:28757145"; MUTAGEN 119; /note="R->A: No effect on ZDHHC17 binding."; /evidence="ECO:0000269|PubMed:28757145"; MUTAGEN 152; /note="Q->A: Decreased cleavage by C.botulinum BoNT/C, no change in cleavage by C.botulinum BoNT/A (botA)."; /evidence="ECO:0000269|PubMed:17718519"; MUTAGEN 156; /note="I->E: Small decrease in affinity for C.botulinum BoNT/A, increased efficiency of BoNT/C cleavage."; /evidence="ECO:0000269|PubMed:15592454, ECO:0000269|PubMed:17718519"; MUTAGEN 166; /note="D->A: Decreased cleavage by BoNT/C, no change in cleavage by BoNT/A."; /evidence="ECO:0000269|PubMed:17718519"; MUTAGEN 167; /note="M->E: Small decrease in affinity for C.botulinum BoNT/A."; /evidence="ECO:0000269|PubMed:15592454"; MUTAGEN 199; /note="A->R: Not cleaved by BoNT/C."; /evidence="ECO:0000269|PubMed:17718519"; MUTAGEN 202; /note="M->Y: Slight decrease in affinity for BoNT/A, increases kcat for BoNT/A."; /evidence="ECO:0000269|PubMed:15592454
uniprot
proteins
post_translational_modification
PTM: Palmitoylated (PubMed:28757145). Cys-85 appears to be the main site, and palmitoylation is required for membrane association (By similarity). {ECO:0000250|UniProtKB:P60879, ECO:0000269|PubMed:28757145}.; PTM: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type A (BoNT/A, botA) which hydrolyzes the 197-Gln-|-Arg-198 bond and inhibits neurotransmitter release (PubMed:15592454, PubMed:9886085). {ECO:0000269|PubMed:9886085, ECO:0000305|PubMed:15592454}.; PTM: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type C (BoNT/C) which hydrolyzes the 198-Arg-|-Ala-199 bond and inhibits neurotransmitter release (PubMed:17718519, PubMed:9886085). C.botulinum type C only rarely infects humans. {ECO:0000269|PubMed:17718519, ECO:0000269|PubMed:9886085}.; PTM: (Microbial infection) Targeted and hydrolyzed by C.botulinum neurotoxin type E (BoNT/E) which hydrolyzes the 180-Arg-|-Ile-181 bond and inhibits neurotransmitter release (PubMed:9886085). {ECO:0000269|PubMed:9886085}.
uniprot
proteins
protein_family
SNAP-25 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
11832227
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592454
uniprot
proteins
pubmed
17718519
uniprot
proteins
pubmed
18375205
uniprot
proteins
pubmed
19546860
uniprot
proteins
pubmed
20798282
uniprot
proteins
pubmed
22832103
uniprot
proteins
pubmed
25381298
uniprot
proteins
pubmed
25915028
uniprot
proteins
pubmed
28757145
uniprot
proteins
pubmed
28882895
uniprot
proteins
pubmed
8056350
uniprot
proteins
pubmed
8112622
uniprot
proteins
pubmed
8760387
uniprot
proteins
pubmed
9886085
uniprot
proteins
sequence_length
206
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.
uniprot
proteins