Human Gene SNAP25 (ENST00000254976.7_12) from GENCODE V47lift37
  Description: synaptosome associated protein 25, transcript variant 2 (from RefSeq NM_130811.4)
Gencode Transcript: ENST00000254976.7_12
Gencode Gene: ENSG00000132639.15_13
Transcript (Including UTRs)
   Position: hg19 chr20:10,199,478-10,288,066 Size: 88,589 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr20:10,256,140-10,286,845 Size: 30,706 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:10,199,478-10,288,066)mRNA (may differ from genome)Protein (206 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
Human Cortex Gene ExpressionMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SNP25_HUMAN
DESCRIPTION: RecName: Full=Synaptosomal-associated protein 25; Short=SNAP-25; AltName: Full=Super protein; Short=SUP; AltName: Full=Synaptosomal-associated 25 kDa protein;
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.
SUBUNIT: Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A. This complex binds CPLX1. Interacts with CENPF, TRIM9, RIMS1, SNAPIN, OTOF and HGS. Binds STXBP6. Found in a ternary complex with STX1A and VAMP8. Found in a complex containing SYT1, SV2B and syntaxin-1 (By similarity). Associates with the BLOC-1 complex. Isoform 1 and isoform 2 interact with BLOC1S6. Interacts with EQTN (By similarity).
INTERACTION: Q8IUH5:ZDHHC17; NbExp=3; IntAct=EBI-524785, EBI-524753;
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region (By similarity). Cell membrane; Lipid-anchor. Cell junction, synapse, synaptosome. Note=Membrane association requires palmitoylation. Expressed throughout cytoplasm, concentrating at the perinuclear region (By similarity).
TISSUE SPECIFICITY: Neurons of the neocortex, hippocampus, piriform cortex, anterior thalamic nuclei, pontine nuclei, and granule cells of the cerebellum.
PTM: Palmitoylated. Cys-85 appears to be the main site, and palmitoylation is required for membrane association (By similarity).
MISCELLANEOUS: When cloned and expressed in Eschericia coli, where protein palmitoylation does not occur, Cys-85, Cys-88, Cys-90 and Cys-92 in the protein sequence readily form an iron-sulfur cluster instead.
SIMILARITY: Belongs to the SNAP-25 family.
SIMILARITY: Contains 2 t-SNARE coiled-coil homology domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SNAP25
Diseases sorted by gene-association score: myasthenic syndrome, congenital, 18* (1279), presynaptic congenital myasthenic syndromes* (247), snap25-related congenital myasthenic syndrome* (100), foodborne botulism (31), tetanus (15), infant botulism (8), antisocial personality disorder (8), creutzfeldt-jakob disease (7), attention deficit-hyperactivity disorder (7), alcohol-related birth defect (6), coloboma (6), schizophrenia (2), congenital myasthenic syndrome (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1229.37 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 5608.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.10211-0.271 Picture PostScript Text
3' UTR -261.601221-0.214 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000928 - SNAP-25
IPR000727 - T_SNARE_dom

Pfam Domains:
PF00835 - SNAP-25 family

SCOP Domains:
47661 - t-snare proteins
58038 - SNARE fusion complex
75708 - Chemotaxis phosphatase CheZ
58104 - Methyl-accepting chemotaxis protein (MCP) signaling domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1KIL - X-ray MuPIT 1XTG - X-ray MuPIT 3RK2 - X-ray MuPIT 3RK3 - X-ray MuPIT 3RL0 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P60880
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000149 SNARE binding
GO:0005484 SNAP receptor activity
GO:0005515 protein binding
GO:0017075 syntaxin-1 binding
GO:0048306 calcium-dependent protein binding

Biological Process:
GO:0001504 neurotransmitter uptake
GO:0007268 chemical synaptic transmission
GO:0007269 neurotransmitter secretion
GO:0007626 locomotory behavior
GO:0008306 associative learning
GO:0010975 regulation of neuron projection development
GO:0016079 synaptic vesicle exocytosis
GO:0016081 synaptic vesicle docking
GO:0016082 synaptic vesicle priming
GO:0031629 synaptic vesicle fusion to presynaptic active zone membrane
GO:0031915 positive regulation of synaptic plasticity
GO:0043312 neutrophil degranulation
GO:0050796 regulation of insulin secretion
GO:0060291 long-term synaptic potentiation
GO:0070201 regulation of establishment of protein localization
GO:0098967 exocytic insertion of neurotransmitter receptor to postsynaptic membrane
GO:0099590 neurotransmitter receptor internalization
GO:1990926 short-term synaptic potentiation

Cellular Component:
GO:0005737 cytoplasm
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0030054 cell junction
GO:0030424 axon
GO:0030426 growth cone
GO:0031201 SNARE complex
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0035579 specific granule membrane
GO:0036477 somatodendritic compartment
GO:0042734 presynaptic membrane
GO:0043005 neuron projection
GO:0043209 myelin sheath
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:0070032 synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex
GO:0070821 tertiary granule membrane
GO:0098794 postsynapse
GO:0008076 voltage-gated potassium channel complex
GO:0031083 BLOC-1 complex
GO:0031982 vesicle


-  Descriptions from all associated GenBank mRNAs
  AK094560 - Homo sapiens cDNA FLJ37241 fis, clone BRAMY2004031, highly similar to SYNAPTOSOMAL ASSOCIATED PROTEIN 25.
AK098347 - Homo sapiens cDNA FLJ25481 fis, clone CBL05056.
D21267 - Homo sapiens HUMSNAP25B(F) mRNA, complete cds.
AK223617 - Homo sapiens mRNA for synaptosomal-associated protein 25 isoform SNAP25B variant, clone: FCC133H07.
AK314359 - Homo sapiens cDNA, FLJ95127, Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25),transcript variant 2, mRNA.
AK289647 - Homo sapiens cDNA FLJ77728 complete cds, highly similar to Homo sapiens synaptosomal-associated protein, 25kDa (SNAP25), transcript variant 1, mRNA.
BC010647 - Homo sapiens synaptosomal-associated protein, 25kDa, mRNA (cDNA clone MGC:9197 IMAGE:3867544), complete cds.
BX647443 - Homo sapiens mRNA; cDNA DKFZp686L1299 (from clone DKFZp686L1299).
AK098767 - Homo sapiens cDNA FLJ25901 fis, clone CBR04308, highly similar to SYNAPTOSOMAL ASSOCIATED PROTEIN 25.
L19760 - Human nerve-terminal protein (isoform SNAP25A) mRNA, complete cds.
L19761 - Human nerve-terminal protein (isoform SNAP-25b) mRNA, complete cds.
JD167330 - Sequence 148354 from Patent EP1572962.
JD400075 - Sequence 381099 from Patent EP1572962.
JD156089 - Sequence 137113 from Patent EP1572962.
AM393230 - Synthetic construct Homo sapiens clone IMAGE:100003022 for hypothetical protein (SNAP25 gene).
AM393653 - Synthetic construct Homo sapiens clone IMAGE:100003023 for hypothetical protein (SNAP25 gene).
AB464259 - Synthetic construct DNA, clone: pF1KB5384, Homo sapiens SNAP25 gene for synaptosomal-associated protein, without stop codon, in Flexi system.
CU679781 - Synthetic construct Homo sapiens gateway clone IMAGE:100018569 5' read SNAP25 mRNA.
HQ447952 - Synthetic construct Homo sapiens clone IMAGE:100071314; CCSB002998_01 synaptosomal-associated protein, 25kDa (SNAP25) gene, encodes complete protein.
BT019684 - Homo sapiens synaptosomal-associated protein, 25kDa mRNA, complete cds.
AK091322 - Homo sapiens cDNA FLJ34003 fis, clone FCBBF1000220.
AX746914 - Sequence 439 from Patent EP1308459.
AK090857 - Homo sapiens cDNA FLJ33538 fis, clone BRAMY2007567, highly similar to SYNAPTOSOMAL ASSOCIATED PROTEIN 25.
AK026732 - Homo sapiens cDNA: FLJ23079 fis, clone LNG06039, highly similar to D21267 Homo sapiens mRNA.
JD023338 - Sequence 4362 from Patent EP1572962.
JD031559 - Sequence 12583 from Patent EP1572962.
JD024647 - Sequence 5671 from Patent EP1572962.
JD027983 - Sequence 9007 from Patent EP1572962.
JD144946 - Sequence 125970 from Patent EP1572962.
JD242350 - Sequence 223374 from Patent EP1572962.
JD078812 - Sequence 59836 from Patent EP1572962.
JD489548 - Sequence 470572 from Patent EP1572962.
JD091323 - Sequence 72347 from Patent EP1572962.
JD551429 - Sequence 532453 from Patent EP1572962.
JD096553 - Sequence 77577 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_botulinPathway - Blockade of Neurotransmitter Relase by Botulinum Toxin

Reactome (by CSHL, EBI, and GO)

Protein P60880 (Reactome details) participates in the following event(s):

R-HSA-194793 BoNT/C LC cleaves target cell SNAP25
R-HSA-194800 BoNT/E LC cleaves target cell SNAP25
R-HSA-194818 BoNT/A LC cleaves target cell SNAP25
R-HSA-210426 Glutamate synaptic vesicle docking and priming
R-HSA-372505 Acetylcholine synaptic vesicle docking and priming
R-HSA-374922 Noradrenalin synaptic vesicle docking and priming
R-HSA-380574 Dopamine synaptic vesicle docking and priming
R-HSA-380905 Serotonin loaded synaptic vesicle docking and priming
R-HSA-917744 GABA loaded synaptic vesicle Docking and Priming
R-HSA-210430 release of L-Glutamate at the synapse
R-HSA-372529 Release of acetylcholine at the synapse
R-HSA-374899 Release of noradrenaline at the synapse
R-HSA-380869 Release of docked dopamine loaded synaptic vesicle
R-HSA-380901 Release of docked serotonin loaded synaptic vesicle
R-HSA-888589 Release of GABA at the synapse
R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798747 Exocytosis of tertiary granule membrane proteins
R-HSA-5250971 Toxicity of botulinum toxin type C (BoNT/C)
R-HSA-5250992 Toxicity of botulinum toxin type E (BoNT/E)
R-HSA-5250968 Toxicity of botulinum toxin type A (BoNT/A)
R-HSA-210500 Glutamate Neurotransmitter Release Cycle
R-HSA-422356 Regulation of insulin secretion
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle
R-HSA-212676 Dopamine Neurotransmitter Release Cycle
R-HSA-181429 Serotonin Neurotransmitter Release Cycle
R-HSA-888590 GABA synthesis, release, reuptake and degradation
R-HSA-6798695 Neutrophil degranulation
R-HSA-168799 Neurotoxicity of clostridium toxins
R-HSA-112310 Neurotransmitter release cycle
R-HSA-163685 Energy Metabolism
R-HSA-168249 Innate Immune System
R-HSA-5339562 Uptake and actions of bacterial toxins
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-1430728 Metabolism
R-HSA-168256 Immune System
R-HSA-5663205 Infectious disease
R-HSA-112316 Neuronal System
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAU4, D3DW16, D3DW17, ENST00000254976.1, ENST00000254976.2, ENST00000254976.3, ENST00000254976.4, ENST00000254976.5, ENST00000254976.6, NM_130811, P13795, P36974, P60880, P70557, P70558, Q53EM2, Q5U0B5, Q8IXK3, Q96FM2, Q9BR45, SNAP, SNP25_HUMAN, uc317fqm.1, uc317fqm.2
UCSC ID: ENST00000254976.7_12
RefSeq Accession: NM_130811.4
Protein: P60880 (aka SNP25_HUMAN or SN25_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SNAP25:
cms (Congenital Myasthenic Syndromes Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.