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SNAP25 synaptosome associated protein 25 [ Homo sapiens (human) ]

Gene ID: 6616, updated on 24-Dec-2019

Summary

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Official Symbol
SNAP25provided by HGNC
Official Full Name
synaptosome associated protein 25provided by HGNC
Primary source
HGNC:HGNC:11132
See related
Ensembl:ENSG00000132639 MIM:600322
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SUP; RIC4; SEC9; SNAP; CMS18; RIC-4; SNAP-25; bA416N4.2; dJ1068F16.2
Summary
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. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward brain (RPKM 418.5) See more
Orthologs
mouse all

Genomic context

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See SNAP25 in Genome Data Viewer
Location:
20p12.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (10218830..10307420)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (10199477..10288068)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene SNAP25 antisense RNA 1 Neighboring gene ankyrin repeat and EF-hand domain containing 1 Neighboring gene uncharacterized LOC105372524 Neighboring gene uncharacterized LOC112268268 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 15

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. SNAP-25 in Serum Is Carried by Exosomes of Neuronal Origin and Is a Potential Biomarker of Alzheimer's Disease. Agliardi C, et al. Mol Neurobiol, 2019 Aug. PMID 30680692
  2. SNAP25 Gene Polymorphisms Protect Against Parkinson's Disease and Modulate Disease Severity in Patients. Agliardi C, et al. Mol Neurobiol, 2019 Jun. PMID 30334187
  3. APOE ε4 is associated with higher levels of CSF SNAP-25 in prodromal Alzheimer's disease. Wang S, et al. Neurosci Lett, 2018 Oct 15. PMID 30144541
  4. The impact of SNAP25 on brain functional connectivity density and working memory in ADHD. Wang C, et al. Biol Psychol, 2018 Oct. PMID 30092259
  5. A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia. Fukuda H, et al. J Hum Genet, 2018 May. PMID 29491473

See all (222) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Neuron-derived exosomes-carried SNAP-25 could be an effective and accessible biomarker that reflects synapses integrity in the brain.
    Title: SNAP-25 in Serum Is Carried by Exosomes of Neuronal Origin and Is a Potential Biomarker of Alzheimer's Disease.
  2. The results show that overweight in boys with ADHD is associated with polymorphisms in SNAP25 , but not through conditioning deficits in cognitive functions.
    Title: Overweight in Boys With ADHD Is Related to Candidate Genes and Not to Deficits in Cognitive Functions.
  3. a possible synergistic effect of SNAP25 single-nucleotide polymorphisms in the pathogenesis of Parkinson's disease, is reported.
    Title: SNAP25 Gene Polymorphisms Protect Against Parkinson's Disease and Modulate Disease Severity in Patients.
  4. We interpret these data to propose that increasing the duration or extent of oltage-gated calcium channels activation prolongs the opportunity for low-efficiency fusion by fusogenic complexes incorporating Botulinum neurotoxins /A-cleaved SNAP-25.
    Title: Use-dependent potentiation of voltage-gated calcium channels rescues neurotransmission in nerve terminals intoxicated by botulinum neurotoxin serotype A.
  5. Compared with SNAP-25 polymorphism rs3746544 G-allele carriers, TT homozygous, which confers a high risk for Attention deficit/hyperactivity disorder (ADHD), exhibited significantly decreased local and long-range functional connectivity density (FCD) in the anterior cingulate cortex and dorsal lateral prefrontal cortex. Moreover, both higher local and long-range FCD could predict better working memory capacity.
    Title: The impact of SNAP25 on brain functional connectivity density and working memory in ADHD.
  6. Strong deregulation of SNAP25 and STX1B has been found at both mRNA and protein levels suggesting impaired synaptic function through SNAP25 reduction as a possible cause of calcium elevation and glutamate excitotoxicity in amyotrophic lateral sclerosis.
    Title: Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS.
  7. NUPR1 regulates the late stages of autolysosome processing through the induction of the SNARE protein SNAP25
    Title: NUPR1 maintains autolysosomal efflux by activating SNAP25 transcription in cancer cells.
  8. apolipoprotein E epsilon4 may affect CSF SNAP levels in mild cognitive impairment patients
    Title: APOE ε4 is associated with higher levels of CSF SNAP-25 in prodromal Alzheimer's disease.
  9. Specific alleles of the SNAP25 (a synaptosome protein coding gene) were found to be significantly associated with Attention-Deficit Hyperactivity Disorder in more than 70% of the studies.
    Title: ADHD, CD, and ODD: Systematic review of genetic and environmental risk factors.
  10. Comparing clinical features of reported patients with SNAP25 mutations, the current patients demonstrated apparently milder clinical features with normal intelligence, and no magnetic resonance imaging abnormality or facial dysmorphism. Our results expand the clinical spectrum of SNAP25 mutations.
    Title: A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.
Submit: New GeneRIF Correction See all GeneRIFs (121)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myasthenic syndrome, congenital, 18
MedGen: C4225364 OMIM: 616330 GeneReviews: Congenital Myasthenic Syndromes
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NHGRI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the pre-synaptic protein SNAP25 expression via neuronal mir-128 in primary cortical neurons PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23079

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNAP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
calcium-dependent protein binding ISS
Inferred from Sequence or Structural Similarity
more info
  
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
syntaxin binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
syntaxin-1 binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
syntaxin-1 binding IPI
Inferred from Physical Interaction
more info
 PubMed 
voltage-gated potassium channel activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
associative learning IEA
Inferred from Electronic Annotation
more info
  
chemical synaptic transmission NAS
Non-traceable Author Statement
more info
 PubMed 
exocytic insertion of neurotransmitter receptor to postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
glutamate secretion TAS
Traceable Author Statement
more info
  
locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
  
neurotransmitter receptor internalization IEA
Inferred from Electronic Annotation
more info
  
neurotransmitter secretion TAS
Traceable Author Statement
more info
  
neurotransmitter uptake NAS
Non-traceable Author Statement
more info
 PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
  
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
regulation of insulin secretion TAS
Traceable Author Statement
more info
 PubMed 
regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
synaptic vesicle docking NAS
Non-traceable Author Statement
more info
 PubMed 
synaptic vesicle exocytosis TAS
Traceable Author Statement
more info
 PubMed 
synaptic vesicle fusion to presynaptic active zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
synaptic vesicle priming IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
vesicle fusion IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with BLOC-1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
SNARE complex IDA
Inferred from Direct Assay
more info
 PubMed 
SNARE complex ISS
Inferred from Sequence or Structural Similarity
more info
  
SNARE complex TAS
Traceable Author Statement
more info
 PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
  
cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 
cytosol TAS
Traceable Author Statement
more info
  
extrinsic component of cytoplasmic side of plasma membrane IEA
Inferred from Electronic Annotation
more info
  
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
growth cone ISS
Inferred from Sequence or Structural Similarity
more info
  
membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
neuron projection ISS
Inferred from Sequence or Structural Similarity
more info
  
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
plasma membrane TAS
Traceable Author Statement
more info
  
postsynapse IEA
Inferred from Electronic Annotation
more info
  
presynaptic membrane TAS
Traceable Author Statement
more info
 PubMed 
somatodendritic compartment IEA
Inferred from Electronic Annotation
more info
  
specific granule membrane TAS
Traceable Author Statement
more info
  
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
  
synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
tertiary granule membrane TAS
Traceable Author Statement
more info
  
trans-Golgi network IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
colocalizes_with voltage-gated potassium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
synaptosomal-associated protein 25
Names
resistance to inhibitors of cholinesterase 4 homolog
synaptosomal-associated protein, 25kDa
synaptosome associated protein 25kDa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029626.1 RefSeqGene

    Range
    4970..93592
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001322902.2 → NP_001309831.1  synaptosomal-associated protein 25 isoform SNAP25A

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13109.1
    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  2. NM_001322903.2 → NP_001309832.1  synaptosomal-associated protein 25 isoform SNAP25B

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13110.1
    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  3. NM_001322904.2 → NP_001309833.1  synaptosomal-associated protein 25 isoform SNAP25B

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13110.1
    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  4. NM_001322905.2 → NP_001309834.1  synaptosomal-associated protein 25 isoform SNAP25B

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13110.1
    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  5. NM_001322906.2 → NP_001309835.1  synaptosomal-associated protein 25 isoform SNAP25B

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13110.1
    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  6. NM_001322907.2 → NP_001309836.1  synaptosomal-associated protein 25 isoform SNAP25B

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13110.1
    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  7. NM_001322908.2 → NP_001309837.1  synaptosomal-associated protein 25 isoform SNAP25B

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13110.1
    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  8. NM_001322909.2 → NP_001309838.1  synaptosomal-associated protein 25 isoform SNAP25B

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13110.1
    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  9. NM_001322910.2 → NP_001309839.1  synaptosomal-associated protein 25 isoform SNAP25B

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13110.1
    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  10. NM_003081.5 → NP_003072.2  synaptosomal-associated protein 25 isoform SNAP25A

    See identical proteins and their annotated locations for NP_003072.2

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13109.1
    UniProtKB/Swiss-Prot
    P60880
    Related
    ENSP00000307341.2, ENST00000304886.6
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  11. NM_130811.4 → NP_570824.1  synaptosomal-associated protein 25 isoform SNAP25B

    See identical proteins and their annotated locations for NP_570824.1

    Status: REVIEWED

    Source sequence(s)
    AL023913, AL354824
    Consensus CDS
    CCDS13110.1
    UniProtKB/Swiss-Prot
    P60880
    Related
    ENSP00000254976.2, ENST00000254976.6
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    10218830..10307420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028022.1 → XP_016883511.1  synaptosomal-associated protein 25 isoform X2

    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  2. XM_017028021.2 → XP_016883510.1  synaptosomal-associated protein 25 isoform X2

    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family

  3. XM_005260808.5 → XP_005260865.1  synaptosomal-associated protein 25 isoform X1

    See identical proteins and their annotated locations for XP_005260865.1

    UniProtKB/Swiss-Prot
    P60880
    Conserved Domains (3) summary
    cd15885
    Location:143 → 201
    SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
    cd15894
    Location:10 → 82
    SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
    pfam00835
    Location:91 → 141
    SNAP-25; SNAP-25 family
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P60880.1 GenPept UniProtKB/Swiss-Prot:P60880

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