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    SNAP47 synaptosome associated protein 47 [ Homo sapiens (human) ]

    Gene ID: 116841, updated on 17-Jun-2019

    Summary

    Official Symbol
    SNAP47provided by HGNC
    Official Full Name
    synaptosome associated protein 47provided by HGNC
    Primary source
    HGNC:HGNC:30669
    See related
    Ensembl:ENSG00000143740
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SVAP1; HEL170; SNAP-47; C1orf142; ESFI5812; HEL-S-290
    Expression
    Ubiquitous expression in testis (RPKM 8.2), ovary (RPKM 7.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See SNAP47 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (227728168..227781231)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227922697..227968932)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 678 Neighboring gene vomeronasal 1 receptor 15 pseudogene Neighboring gene zinc finger protein 847, pseudogene Neighboring gene jumonji domain containing 4 Neighboring gene collagen alpha-1(III) chain-like Neighboring gene serine protease 38

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ12517, FLJ30704, FLJ36417, DKFZp686M10160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SNAP receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    syntaxin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    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 
    long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    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 
    postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    synaptosomal-associated protein 47
    Names
    epididymis luminal protein 170
    epididymis secretory protein Li 290
    synaptosomal-associated 47 kDa protein
    synaptosomal-associated protein, 47kDa
    synaptosome associated protein 47kDa

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001323930.1NP_001310859.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7
      Conserved Domains (3) summary
      cd15854
      Location:359417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:4298
      PH-like; Pleckstrin homology-like domain
    2. NM_001323931.1NP_001310860.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7
      Conserved Domains (3) summary
      cd15854
      Location:359417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:4298
      PH-like; Pleckstrin homology-like domain
    3. NM_001323932.1NP_001310861.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7
      Conserved Domains (3) summary
      cd15854
      Location:359417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:4298
      PH-like; Pleckstrin homology-like domain
    4. NM_001323933.1NP_001310862.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7
      Conserved Domains (3) summary
      cd15854
      Location:359417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:4298
      PH-like; Pleckstrin homology-like domain
    5. NM_001323934.1NP_001310863.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7
      Related
      ENSP00000483253.1, ENST00000617596.4
      Conserved Domains (3) summary
      cd15854
      Location:359417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:4298
      PH-like; Pleckstrin homology-like domain
    6. NM_001323935.1NP_001310864.1  synaptosomal-associated protein 47 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL136378
      UniProtKB/Swiss-Prot
      Q5SQN1
      Related
      ENSP00000411128.1, ENST00000426344.5
    7. NM_053052.3NP_444280.2  synaptosomal-associated protein 47 isoform a

      See identical proteins and their annotated locations for NP_444280.2

      Status: VALIDATED

      Source sequence(s)
      AY090635, BC014059, BC025231
      Consensus CDS
      CCDS1562.1
      UniProtKB/Swiss-Prot
      Q5SQN1
      Related
      ENSP00000314157.6, ENST00000315781.9
      Conserved Domains (3) summary
      cd15854
      Location:404462
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:151215
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:87143
      PH-like; Pleckstrin homology-like domain

    RNA

    1. NR_136654.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Related
      ENST00000366760.5
    2. NR_136655.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
    3. NR_136656.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
    4. NR_136657.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136378
      Related
      ENST00000418653.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      227728168..227781231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000232.1XP_016855721.1  synaptosomal-associated protein 47 isoform X1

      UniProtKB/Swiss-Prot
      Q5SQN1
      Conserved Domains (3) summary
      cd15854
      Location:404462
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:151215
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:87143
      PH-like; Pleckstrin homology-like domain
    2. XM_017000231.2XP_016855720.1  synaptosomal-associated protein 47 isoform X1

      UniProtKB/Swiss-Prot
      Q5SQN1
      Conserved Domains (3) summary
      cd15854
      Location:404462
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:151215
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:87143
      PH-like; Pleckstrin homology-like domain
    3. XM_006711734.3XP_006711797.1  synaptosomal-associated protein 47 isoform X2

      Conserved Domains (3) summary
      cd15854
      Location:375433
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:122186
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:58114
      PH-like; Pleckstrin homology-like domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_024485.1: Suppressed sequence

      Description
      NR_024485.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    2. NR_024486.1: Suppressed sequence

      Description
      NR_024486.1: This RefSeq was removed because currently there is insufficient support for the transcript.
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