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

    Gene ID: 116841, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SNAP47provided by HGNC
    Official Full Name
    synaptosome associated protein 47provided by HGNC
    Primary source
    HGNC:HGNC:30669
    See related
    Ensembl:ENSG00000143740 MIM:619659; AllianceGenome:HGNC:30669
    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
    Summary
    Predicted to enable SNAP receptor activity and syntaxin binding activity. Predicted to be involved in synaptic vesicle fusion to presynaptic active zone membrane and synaptic vesicle priming. Predicted to act upstream of or within long-term synaptic potentiation. Located in BLOC-1 complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 8.2), ovary (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SNAP47 in Genome Data Viewer
    Location:
    1q42.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (227728168..227781226)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (226917102..226970160)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (227915869..227968927)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 678 Neighboring gene vomeronasal 1 receptor 15 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227880161-227880375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:227898535-227899471 Neighboring gene zinc finger protein 847, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227915603-227916208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227928395-227928940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227928941-227929485 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:227929473-227929676 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:227937705-227938206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2683 Neighboring gene jumonji domain containing 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:227949169-227949919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:227952921-227953670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227953671-227954420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227961766-227962583 Neighboring gene MPRA-validated peak747 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227965808-227966590 Neighboring gene uncharacterized LOC105373289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227980229-227980892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:227981557-227982220 Neighboring gene MPRA-validated peak748 silencer Neighboring gene serine protease 38

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The STX17-SNAP47-VAMP7/VAMP8 complex is the default SNARE complex mediating autophagosome-lysosome fusion.
      Title: The STX17-SNAP47-VAMP7/VAMP8 complex is the default SNARE complex mediating autophagosome-lysosome fusion.
    2. A novel identified circular RNA, circSnap47, promotes heart failure progression via regulation of miR-223-3p/MAPK axis.
      Title: A novel identified circular RNA, circSnap47, promotes heart failure progression via regulation of miR-223-3p/MAPK axis.
    3. SNAP47 Interacts with ATG14 to Promote VP1 Conjugation and CVB3 Propagation.
      Title: SNAP47 Interacts with ATG14 to Promote VP1 Conjugation and CVB3 Propagation.
    4. Three proteins are identified: PAI-RBP1, C1orf142, and COTL1, which are differentially expressed in non-small cell lung cancer cell lines with different metastatic potential.
      Title: Differential expression of PAI-RBP1, C1orf142, and COTL1 in non-small cell lung cancer cell lines with different tumor metastatic potential.
    Submit: New GeneRIF Correction

    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

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12517, FLJ30704, FLJ36417, DKFZp686M10160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNAP receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables syntaxin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic vesicle fusion to presynaptic active zone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in synaptic vesicle priming IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of BLOC-1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of SNARE complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endomembrane system IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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)

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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.

    mRNA and Protein(s)

    1. NM_001323930.2 → NP_001310859.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7, A0A0K0K1I8
      Related
      ENSP00000505843.1, ENST00000680992.1
      Conserved Domains (3) summary
      cd15854
      Location:359 → 417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106 → 170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:6 → 99
      PH-like; Pleckstrin homology-like domain

    2. NM_001323931.2 → NP_001310860.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7, A0A0K0K1I8
      Related
      ENSP00000505139.1, ENST00000681149.1
      Conserved Domains (3) summary
      cd15854
      Location:359 → 417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106 → 170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:6 → 99
      PH-like; Pleckstrin homology-like domain

    3. NM_001323932.2 → NP_001310861.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7, A0A0K0K1I8
      Related
      ENSP00000505610.1, ENST00000680854.1
      Conserved Domains (3) summary
      cd15854
      Location:359 → 417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106 → 170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:6 → 99
      PH-like; Pleckstrin homology-like domain

    4. NM_001323933.2 → NP_001310862.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7, A0A0K0K1I8
      Related
      ENSP00000506670.1, ENST00000681827.1
      Conserved Domains (3) summary
      cd15854
      Location:359 → 417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106 → 170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:6 → 99
      PH-like; Pleckstrin homology-like domain

    5. NM_001323934.2 → NP_001310863.1  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7, A0A0K0K1I8
      Related
      ENSP00000506178.1, ENST00000680202.1
      Conserved Domains (3) summary
      cd15854
      Location:359 → 417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106 → 170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:6 → 99
      PH-like; Pleckstrin homology-like domain

    6. NM_001323935.1 → NP_001310864.1  synaptosomal-associated protein 47 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL136378
      UniProtKB/TrEMBL
      H7C3C7
      Related
      ENSP00000411128.2, ENST00000426344.6

    7. NM_053052.4 → NP_444280.3  synaptosomal-associated protein 47 isoform b

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Consensus CDS
      CCDS81429.1
      UniProtKB/TrEMBL
      A0A087X0B7, A0A0K0K1I8
      Related
      ENSP00000483253.1, ENST00000617596.5
      Conserved Domains (3) summary
      cd15854
      Location:359 → 417
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:106 → 170
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:6 → 99
      PH-like; Pleckstrin homology-like domain

    RNA

    1. NR_136654.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Related
      ENST00000366760.5

    2. NR_136655.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Related
      ENST00000315781.10

    3. NR_136656.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136378, AL731702
      Related
      ENST00000681929.1

    4. NR_136657.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136378
      Related
      ENST00000418653.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      227728168..227781226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444119.1 → XP_047300075.1  synaptosomal-associated protein 47 isoform X1

      UniProtKB/Swiss-Prot
      B6EDE0, Q5HYB5, Q5SQN1, Q5TBZ3, Q8N558, Q8TB31, Q8TCW8, Q8WV46, Q96CQ3, Q96FE1, Q96I66, Q96NU3, Q9BT10, Q9BVB2

    2. XM_017000232.2 → XP_016855721.1  synaptosomal-associated protein 47 isoform X1

      UniProtKB/Swiss-Prot
      B6EDE0, Q5HYB5, Q5SQN1, Q5TBZ3, Q8N558, Q8TB31, Q8TCW8, Q8WV46, Q96CQ3, Q96FE1, Q96I66, Q96NU3, Q9BT10, Q9BVB2
      UniProtKB/TrEMBL
      A0A0K0K1I8
      Conserved Domains (3) summary
      cd15854
      Location:404 → 462
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:151 → 215
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:87 → 143
      PH-like; Pleckstrin homology-like domain

    3. XM_006711734.3 → XP_006711797.1  synaptosomal-associated protein 47 isoform X2

      UniProtKB/TrEMBL
      A0A0K0K1I8
      Conserved Domains (3) summary
      cd15854
      Location:375 → 433
      SNARE_SNAP47C; C-terminal SNARE motif of SNAP47
      cd15888
      Location:122 → 186
      SNARE_SNAP47N; N-terminal SNARE motif of SNAP47
      cl17171
      Location:58 → 114
      PH-like; Pleckstrin homology-like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      226917102..226970160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334169.1 → XP_054190144.1  synaptosomal-associated protein 47 isoform X1

      UniProtKB/Swiss-Prot
      B6EDE0, Q5HYB5, Q5SQN1, Q5TBZ3, Q8N558, Q8TB31, Q8TCW8, Q8WV46, Q96CQ3, Q96FE1, Q96I66, Q96NU3, Q9BT10, Q9BVB2

    2. XM_054334170.1 → XP_054190145.1  synaptosomal-associated protein 47 isoform X1

      UniProtKB/Swiss-Prot
      B6EDE0, Q5HYB5, Q5SQN1, Q5TBZ3, Q8N558, Q8TB31, Q8TCW8, Q8WV46, Q96CQ3, Q96FE1, Q96I66, Q96NU3, Q9BT10, Q9BVB2

    3. XM_054334171.1 → XP_054190146.1  synaptosomal-associated protein 47 isoform X2

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SQN1.3 GenPept UniProtKB/Swiss-Prot:Q5SQN1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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