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

Gene ID: 116841, updated on 3-Apr-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. Colocalizes with BLOC-1 complex. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
1q42.13
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (227728168..227781226)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (226917102..226970160)
105.20220307 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 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
  • 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. A novel identified circular RNA, circSnap47, promotes heart failure progression via regulation of miR-223-3p/MAPK axis. Wang Y, et al. Mol Cell Biochem, 2023 Mar. PMID 35900666
  2. SNAP47 Interacts with ATG14 to Promote VP1 Conjugation and CVB3 Propagation. Xiang P, et al. Cells, 2021 Aug 20. PMID 34440910, Free PMC Article
  3. Differential expression of PAI-RBP1, C1orf142, and COTL1 in non-small cell lung cancer cell lines with different tumor metastatic potential. Sun W, et al. J Investig Med, 2012 Apr. PMID 22373659
  4. Identification of SNAP-47, a novel Qbc-SNARE with ubiquitous expression. Holt M, et al. J Biol Chem, 2006 Jun 23. PMID 16621800
  5. The Q-soluble N-Ethylmaleimide-sensitive Factor Attachment Protein Receptor (Q-SNARE) SNAP-47 Regulates Trafficking of Selected Vesicle-associated Membrane Proteins (VAMPs). Kuster A, et al. J Biol Chem, 2015 Nov 20. PMID 26359495, Free PMC Article

See all (37) citations in PubMed

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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

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