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FLASH GENE
Symbol SNAP25 contributors: mct - updated : 01-09-2015
HGNC name synaptosomal-associated protein, 25kDa
HGNC id 11132
Corresponding disease
CMS18 myasthenic syndrome, congenital, 18
Location 20p12.2      Physical location : 10.199.476 - 10.288.065
Synonym name
  • resistance to inhibitors of cholinesterase 4 homolog
  • super protein
  • Synonym symbol(s) D20S140E, SNAP, FLJ23079, RIC-4, RIC4, SEC9, dJ1068F16.2, bA416N4.2
    DNA
    TYPE functioning gene
    STRUCTURE 88.60 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • promoter contains functional SP1 response elements, and over-expression of SP1 increased SNAP25 gene expression and inhibition of SP1-mediated transcriptional activation reduced SNAP-25 gene expression
  • MAPPING cloned Y linked N status provisional
    Map pter - D20S175 - D20S162 - D20S505 - SNAP25 - D20S160 - D20S507 - JAG1 - D20S894 - D20S188 - cen
    Physical map
    LOC219414 20p12.3 similar to TAR DNA binding protein LOC149844 20p12.3 NS1-associated protein 1 pseudogene BMP2 20p12 bone morphogenetic protein 2 pFUSIP1 20p12.3 FUSIP1 pseudogene HAO1 20p12.3 hydroxyacid oxidase (glycolate oxidase) 1 DJ971N18.2 20p12 hypothetical protein DJ971N18.2 PHKBP1 20p12.3-20p12.2 phosphorylase kinase, beta pseudogene 1 PLCB1 20p12 phospholipase C, beta 1 (phosphoinositide-specific) PLCB4 20p12 phospholipase C, beta 4 C20orf103 20p12 chromosome 20 open reading frame 103 PAK7 20p12 p21(CDKN1A)-activated kinase 7 ANKRD5 20pter-q11.23 ankyrin repeat domain 5 SNAP25 20p12-p11.2 synaptosomal-associated protein, 25kDa RPL23AP6 20p12.2 ribosomal protein L23a pseudogene 6 LOC284773 20p12.2 similar to hypothetical protein FLJ10498 MKKS 20p12 McKusick-Kaufman syndrome LOC128710 20p12.2 similar to RIKEN cDNA 2210009G21 JAG1 20p12.1-p11.23 jagged 1 (Alagille syndrome) FAT1P1 20 FAT tumor suppressor homolog 1 (Drosophila) pseudogene 1 RPS11P1 20p12.1 ribosomal protein S11, pseudogene 1 PGAM3P 20p12.1 phosphoglycerate mutase 3, pseudogene BTBD3 20p12.1 BTB (POZ) domain containing 3 PA2G4P2 20p12.1 proliferation-associated 2G4 pseudogene 2 C20orf38 20p12.1 chromosome 20 open reading frame 38 C20orf82 20p12.1 chromosome 20 open reading frame 82 C20orf13 20p12.1 chromosome 20 open reading frame 13 GAPDP2 20p12 glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 MRPS36P6 20p12.1 mitochondrial ribosomal protein S36 pseudogene C20orf6 20p12.1 chromosome 20 open reading frame 6 C20orf7 20p12.1 chromosome 20 open reading frame 7 C20orf50 20p12.1 chromosome 20 open reading frame 50 C20orf133 20p12.1 chromosome 20 open reading frame 133 RPS3P1 20p12 ribosomal protein S3 pseudogene 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 2053 23.3 206 - 2010 20519516
  • SNAP25-A variant 1
  • 8 splicing 2053 - 206 - 2010 20519516
  • SNAP25b
  • an alternate exon 5
  • DHHC15 promoted a statistically significant increase in membrane association of only SNAP25b
  • contains a minimal membrane targeting sequence that is located between AAs 85 and 120
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal glandcortex  moderately Homo sapiens
     pancreas   moderately Homo sapiens
    Hearing/Equilibriumear   highly
    Nervousbraindiencephalonhypothalamus highly Homo sapiens
     brainhindbraincerebellum  
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...) Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a central membrane targeting module including a palmitoylated cysteine cluster with four cysteines , and this cysteine-rich domain is designed to facilitate the dual function of this SNARE protein at the plasma membrane and endosomes
  • an additional five AA motif required for membrane anchoring
  • two T-SNARE coiled-coil homology domains
  • secondary structure two alpha helices contributing to the four helix bundle of the synaptic SNARE complex
    conjugated LipoP , MetalloP
    HOMOLOGY
    intraspecies homolog to SNAP23 (60 p100)
    Homologene
    FAMILY
  • SNAP-25 family
  • CATEGORY structural protein , receptor , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • fusion of plasma membrane to synaptic vesicles
  • pre-synaptic plasma membrane protein
  • axonally distributed
  • membrane association of all SNAP25/23 proteins is enhanced by Golgi-localized DHHC3, DHHC7, and DHHC17
  • peripheral membrane protein
  • basic FUNCTION
  • soluble N ethylmaleimide-sensitive factor-attachment protein receptor, SNARE protein
  • may play an important role in the synaptic function of specific neuronal systems
  • plays an important role in synaptic vesicle membrane docking and fusion, which is involved in the regulation of neurotransmitter release
  • involved in presynaptic neurotransmitter release
  • participates in synaptic vesicle exocytosis through the formation of a SNARE complex and also plays a pivotal role in modulating calcium homeostasis through negative regulation of voltage-gated calcium channels
  • heterogeneous distribution in brain may have important implications not only in relation to the function of the protein as a SNARE but also in the control of network excitability
  • having essential functions in presynaptic neurotransmitter release
  • play essential roles as SNARE proteins in membrane fusion events that occur at the plasma membrane
  • essential for synaptic vesicle release from presynaptic nerve terminals
  • regulates native voltage-gated calcium channels in glutamatergic neurons which could have important implications for neurological diseases associated with altered SNAP25 expression
  • peripheral membrane protein, and palmitoylation of a cluster of four cysteine residues mediates its stable association with the membrane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS exocytosis transport
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of a synaptic core (SNARE) complex with syntaxin and synaptosome associated proteins
  • SNARE component of the exocytotic apparatus involved in the release of neurotransmitter
  • fundamental component of the SNARE complex responsible for vesicle fusion
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • syntaxin 1A by the membrane targeting module, t-SNARES and synaptobrevin (VAMPx) after the fusion of synaptic vesicle to plasma membrane
  • RIMS1
  • interaction between EEA1 and SNAP25 dependent on the leucine zipper and a newly identified methyl-accepting domain of EEA1
  • present at the presynaptic plasma membrane and form a complex with syntaxin 1, an additional SNARE present at the plasma membrane, and the synaptic vesicle SNARE protein VAMP2
  • interaction between the cargo-binding domain of kinesin-1 heavy chain KIF5B and the membrane-associated SNARE proteins SNAP25 and SNAP23
  • SFXN5
  • bound to the same region in ZWINT as RAB3C (
  • interacting with KIF1A, KIF1B, KIF1C (facilitates the transport of SNAP25 containing vesicles as a prerequisite to SNAP25 driven membrane fusion events
  • interacting with DHHC proteins which may be important in dynamic remodeling of SNAP25 palmitoylation
  • interaction of ADGRV1 and SNAP25 in organ of Corti and brain
  • cell & other
    REGULATION
    Other palmitoylated in vivo for the binding to syntaxin
    synthesized as soluble protein and become membrane-associated via palmitoylation of its cysteine-rich domain
    dynamic palmitoylation acts as a mechanism to regulate the precise intracellular patterning of SNAP25
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS18
    Susceptibility to attention deficit hyperactivity disorder 2 with preferential transmission of paternal alleles
    Variant & Polymorphism SNP , repeat SNPs (rs3746544, rs1051312) associated to attention deficit hyperactivity disorder
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS