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

    Gene ID: 6616, updated on 16-Jul-2017
    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; Vega:OTTHUMG00000031863
    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]
    Orthologs
    Location:
    20p12.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (10218694..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 HIG1 hypoxia inducible domain family member 1A pseudogene 15 Neighboring gene ribosomal protein L23a pseudogene 6

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Myasthenic syndrome, congenital, 18
    MedGen: C4225364 OMIM: 616330 GeneReviews: Not available
    Compare labs

    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

    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

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    • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
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    • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
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    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
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    Products Interactant Other Gene Complex Source Pubs Description

    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
     
    calcium-dependent protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    syntaxin-1 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
     
    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
     
    positive regulation of synaptic plasticity 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
     
    short-term synaptic potentiation 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
     
    synaptic vesicle priming IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    colocalizes_with BLOC-1 complex IDA
    Inferred from Direct Assay
    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 
    axon IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myelin sheath IEA
    Inferred from Electronic Annotation
    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 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
     
    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
     
    Preferred Names
    synaptosomal-associated protein 25
    Names
    resistance to inhibitors of cholinesterase 4 homolog
    synaptosomal-associated protein, 25kDa
    synaptosome associated protein 25kDa

    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_001322902.1NP_001309831.1  synaptosomal-associated protein 25 isoform SNAP25A

      Status: REVIEWED

      Source sequence(s)
      AL023913, AL354824, BM666216, HY127744
      Consensus CDS
      CCDS13109.1
      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    2. NM_001322903.1NP_001309832.1  synaptosomal-associated protein 25 isoform SNAP25B

      Status: REVIEWED

      Source sequence(s)
      AL023913, AL354824, BM666216, DA072367
      Consensus CDS
      CCDS13110.1
      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    3. NM_001322904.1NP_001309833.1  synaptosomal-associated protein 25 isoform SNAP25B

      Status: REVIEWED

      Source sequence(s)
      AL023913, AL354824, BM666216, DA162693
      Consensus CDS
      CCDS13110.1
      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    4. NM_001322905.1NP_001309834.1  synaptosomal-associated protein 25 isoform SNAP25B

      Status: REVIEWED

      Source sequence(s)
      AL023913, AL354824, BM666216, DA072367
      Consensus CDS
      CCDS13110.1
      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    5. NM_001322906.1NP_001309835.1  synaptosomal-associated protein 25 isoform SNAP25B

      Status: REVIEWED

      Source sequence(s)
      AL023913, AL354824, BM666216, DA162693
      Consensus CDS
      CCDS13110.1
      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    6. NM_001322907.1NP_001309836.1  synaptosomal-associated protein 25 isoform SNAP25B

      Status: REVIEWED

      Source sequence(s)
      AL023913, AL354824, BM666216, DA162693
      Consensus CDS
      CCDS13110.1
      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    7. NM_001322908.1NP_001309837.1  synaptosomal-associated protein 25 isoform SNAP25B

      Status: REVIEWED

      Source sequence(s)
      AL023913, AL354824, BM666216, DA162693
      Consensus CDS
      CCDS13110.1
      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    8. NM_001322909.1NP_001309838.1  synaptosomal-associated protein 25 isoform SNAP25B

      Status: REVIEWED

      Source sequence(s)
      AL023913, AL354824, BM666216, DA162693
      Consensus CDS
      CCDS13110.1
      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    9. NM_001322910.1NP_001309839.1  synaptosomal-associated protein 25 isoform SNAP25B

      Status: REVIEWED

      Source sequence(s)
      AL023913, AL354824, BM666216, DA162693
      Consensus CDS
      CCDS13110.1
      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    10. NM_003081.4NP_003072.2  synaptosomal-associated protein 25 isoform SNAP25A

      See identical proteins and their annotated locations for NP_003072.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains 8 exons and encodes isoform SNAP25A.
      Source sequence(s)
      BC010647, BI552777, BM666216, BX647443, DA072367
      Consensus CDS
      CCDS13109.1
      UniProtKB/Swiss-Prot
      P60880
      Related
      ENSP00000307341.2, OTTHUMP00000030268, ENST00000304886.6, OTTHUMT00000077977
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    11. NM_130811.3NP_570824.1  synaptosomal-associated protein 25 isoform SNAP25B

      See identical proteins and their annotated locations for NP_570824.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon 5 as compared to transcript variant 1. This results in an isoform (SNAP25B) that is the same length, and contains the same N- and C-termini as isoform SNAP25A, but has 9 aa differences internally.
      Source sequence(s)
      BC010647, BM666216, BX647443, D21267, DA072367
      Consensus CDS
      CCDS13110.1
      UniProtKB/Swiss-Prot
      P60880
      Related
      ENSP00000254976.2, OTTHUMP00000030267, ENST00000254976.6, OTTHUMT00000077976
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      10218694..10307420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028023.1XP_016883512.1  synaptosomal-associated protein 25 isoform X3

      Conserved Domains (2) summary
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91136
      SNAP-25; SNAP-25 family
    2. XM_017028022.1XP_016883511.1  synaptosomal-associated protein 25 isoform X2

      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    3. XM_017028021.1XP_016883510.1  synaptosomal-associated protein 25 isoform X2

      UniProtKB/Swiss-Prot
      P60880
      Conserved Domains (3) summary
      cd15885
      Location:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family
    4. XM_005260808.4XP_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:143201
      SNARE_SNAP25C; C-terminal SNARE motif of SNAP25
      cd15894
      Location:1082
      SNARE_SNAP25N; N-terminal SNARE motif of SNAP25
      pfam00835
      Location:91141
      SNAP-25; SNAP-25 family

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      10200131..10288709
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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