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Aliases for SNAP47 Gene

Aliases for SNAP47 Gene

  • Synaptosome Associated Protein 47kDa 2 3 5
  • Synaptosomal-Associated Protein, 47kDa 2 3
  • Synaptosomal-Associated 47 KDa Protein 3 4
  • Epididymis Luminal Protein 170 3 4
  • C1orf142 3 4
  • SNAP-47 3 4
  • HEL170 3 4
  • SVAP1 3 4
  • Chromosome 1 Open Reading Frame 142 2
  • Epididymis Secretory Protein Li 290 3
  • HEL-S-290 3
  • ESFI5812 3

External Ids for SNAP47 Gene

Previous HGNC Symbols for SNAP47 Gene

  • C1orf142

Previous GeneCards Identifiers for SNAP47 Gene

  • GC01P225984
  • GC01P227917
  • GC01P198439

Summaries for SNAP47 Gene

GeneCards Summary for SNAP47 Gene

SNAP47 (Synaptosome Associated Protein 47kDa) is a Protein Coding gene. GO annotations related to this gene include syntaxin binding and SNAP receptor activity.

UniProtKB/Swiss-Prot for SNAP47 Gene

  • Plays a role in intracellular membrane fusion.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNAP47 Gene

Genomics for SNAP47 Gene

Regulatory Elements for SNAP47 Gene

Enhancers for SNAP47 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SNAP47 on UCSC Golden Path with GeneCards custom track

Promoters for SNAP47 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SNAP47 on UCSC Golden Path with GeneCards custom track

Genomic Location for SNAP47 Gene

Chromosome:
1
Start:
227,728,539 bp from pter
End:
227,781,231 bp from pter
Size:
52,693 bases
Orientation:
Plus strand

Genomic View for SNAP47 Gene

Genes around SNAP47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNAP47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNAP47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNAP47 Gene

Proteins for SNAP47 Gene

  • Protein details for SNAP47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SQN1-SNP47_HUMAN
    Recommended name:
    Synaptosomal-associated protein 47
    Protein Accession:
    Q5SQN1
    Secondary Accessions:
    • B6EDE0
    • Q5HYB5
    • Q5TBZ3
    • Q8N558
    • Q8TB31
    • Q8TCW8
    • Q8WV46
    • Q96CQ3
    • Q96FE1
    • Q96I66
    • Q96NU3
    • Q9BT10
    • Q9BVB2

    Protein attributes for SNAP47 Gene

    Size:
    464 amino acids
    Molecular mass:
    52562 Da
    Quaternary structure:
    • Forms a complex containing SNAP47, VAMP2 and STX1A (By similarity). Associates with the BLOC-1 complex. Interacts with BLOC1S6.
    SequenceCaution:
    • Sequence=BAB70779.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SNAP47 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNAP47 Gene

Proteomics data for SNAP47 Gene at MOPED

Post-translational modifications for SNAP47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SNAP47 Gene

Domains & Families for SNAP47 Gene

Protein Domains for SNAP47 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNAP47 Gene

Graphical View of Domain Structure for InterPro Entry

Q5SQN1

UniProtKB/Swiss-Prot:

SNP47_HUMAN :
  • Contains 2 t-SNARE coiled-coil homology domains.
  • Belongs to the SVAP1 family.
Domain:
  • Contains 2 t-SNARE coiled-coil homology domains.
Family:
  • Belongs to the SVAP1 family.
genes like me logo Genes that share domains with SNAP47: view

No data available for Gene Families for SNAP47 Gene

Function for SNAP47 Gene

Molecular function for SNAP47 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in intracellular membrane fusion.

Gene Ontology (GO) - Molecular Function for SNAP47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity IBA --
genes like me logo Genes that share ontologies with SNAP47: view
genes like me logo Genes that share phenotypes with SNAP47: view

Animal Models for SNAP47 Gene

MGI Knock Outs for SNAP47:

Animal Model Products

CRISPR Products

miRNA for SNAP47 Gene

miRTarBase miRNAs that target SNAP47

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SNAP47 Gene

Localization for SNAP47 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNAP47 Gene

Endomembrane system. Cytoplasm, perinuclear region. Note=Appears to be exclusively membrane-bound. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNAP47 Gene COMPARTMENTS Subcellular localization image for SNAP47 gene
Compartment Confidence
nucleus 3
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for SNAP47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0030425 dendrite IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
GO:0098793 presynapse IBA --
genes like me logo Genes that share ontologies with SNAP47: view

Pathways & Interactions for SNAP47 Gene

SuperPathways for SNAP47 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SNAP47 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SNAP47 Gene

Drugs & Compounds for SNAP47 Gene

No Compound Related Data Available

Transcripts for SNAP47 Gene

Unigene Clusters for SNAP47 Gene

Synaptosomal-associated protein, 47kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNAP47 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
SP1: -
SP2: - -
SP3: - - -
SP4:

Relevant External Links for SNAP47 Gene

GeneLoc Exon Structure for
SNAP47
ECgene alternative splicing isoforms for
SNAP47

Expression for SNAP47 Gene

mRNA expression in normal human tissues for SNAP47 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SNAP47 Gene

This gene is overexpressed in Frontal cortex (51.5) and Ovary (17.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNAP47 Gene



SOURCE GeneReport for Unigene cluster for SNAP47 Gene Hs.325081

genes like me logo Genes that share expression patterns with SNAP47: view

Protein tissue co-expression partners for SNAP47 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SNAP47 Gene

Orthologs for SNAP47 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SNAP47 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SNAP47 35
  • 80.11 (n)
  • 77.57 (a)
SNAP47 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNAP47 35
  • 78.47 (n)
  • 74.94 (a)
-- 36
  • 75 (a)
OneToMany
-- 36
  • 74 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Snap47 35
  • 74.43 (n)
  • 68.2 (a)
Snap47 16
Snap47 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNAP47 35
  • 99.5 (n)
  • 99.35 (a)
SNAP47 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snap47 35
  • 76.4 (n)
  • 73.44 (a)
oppossum
(Monodelphis domestica)
Mammalia SNAP47 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNAP47 35
  • 67.15 (n)
  • 60.91 (a)
SNAP47 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNAP47 36
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii Dr.20482 35
snap47 35
  • 59.5 (n)
  • 50 (a)
snap47 36
  • 48 (a)
OneToOne
Species with no ortholog for SNAP47:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SNAP47 Gene

ENSEMBL:
Gene Tree for SNAP47 (if available)
TreeFam:
Gene Tree for SNAP47 (if available)

Paralogs for SNAP47 Gene

No data available for Paralogs for SNAP47 Gene

Variants for SNAP47 Gene

Sequence variations from dbSNP and Humsavar for SNAP47 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2236359 - 227,747,743(-) ATCCC(C/T)GCTCA intron-variant, reference, missense
rs12239037 - 227,747,956(+) AGAAG(C/G)GCCAT intron-variant, reference, missense
rs2236358 - 227,748,061(-) TGCCA(C/T)GGCTC intron-variant, reference, missense
rs17851681 - 227,766,976(+) TGGGC(C/T)GTACC reference, missense
rs730684 -- 227,766,254(+) CCAGA(C/G/T)GTAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNAP47 Gene

Variant ID Type Subtype PubMed ID
esv32853 CNV Gain 17666407
nsv826908 CNV Gain 20364138
nsv515496 CNV Loss 19592680
nsv873249 CNV Loss 21882294
esv2724217 CNV Deletion 23290073
esv8091 CNV Gain 19470904

Variation tolerance for SNAP47 Gene

Residual Variation Intolerance Score: 88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.45; 92.83% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for SNAP47 Gene

Disorders for SNAP47 Gene

Relevant External Links for SNAP47

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNAP47

No disorders were found for SNAP47 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SNAP47 Gene

Publications for SNAP47 Gene

  1. The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. (PMID: 19546860) Ghiani C.A. … Dell'Angelica E.C. (Mol. Psychiatry 2010) 3 4 67
  2. Identification of SNAP-47, a novel Qbc-SNARE with ubiquitous expression. (PMID: 16621800) Holt M. … Jahn R. (J. Biol. Chem. 2006) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. The Q-soluble N-Ethylmaleimide-sensitive Factor Attachment Protein Receptor (Q-SNARE) SNAP-47 Regulates Trafficking of Selected Vesicle-associated Membrane Proteins (VAMPs). (PMID: 26359495) Kuster A. … Proux-Gillardeaux V. (J. Biol. Chem. 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for SNAP47 Gene

Sources for SNAP47 Gene

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