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Aliases for SNAP47 Gene

Aliases for SNAP47 Gene

  • Synaptosome Associated Protein 47 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
  • Synaptosome Associated Protein 47kDa 3
  • Chromosome 1 Open Reading Frame 142 2
  • Epididymis Secretory Protein Li 290 3
  • Synaptosomal-Associated Protein 47 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 47) 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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G227748 1.5 FANTOM5 ENCODE dbSUPER 12 +20.5 20487 1.8 HDAC1 PKNOX1 ATF1 TBL1XR1 ZBTB40 ZNF766 RCOR1 CREM SMARCA5 ZBTB11 SNAP47 ZNF678 SNAP47-AS1 LOC105373289
GH01G227733 1.4 ENCODE dbSUPER 11.9 +6.6 6554 2.8 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 SLC30A9 ZNF416 ZNF143 ZNF548 CICP26 C1orf35 ENSG00000269890 SNAP47 JMJD4 ENSG00000231563 PIR45879
GH01G227787 1.5 Ensembl ENCODE dbSUPER 11 +59.6 59565 3.0 AGO1 ARID4B GLI4 ZNF2 GLIS2 ZNF143 KLF7 ZNF263 SP3 MXD4 SNAP47 WNT9A LOC105373289 PRSS38
GH01G227792 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7 +65.5 65508 2.6 CBX3 INSM2 KLF17 FEZF1 RAD21 GLIS2 ZNF366 EGR2 ZNF263 ZNF398 JMJD4 WNT9A C1orf35 SNAP47 COQ8A ZNF678 CDC42BPA LOC105373289 PRSS38
GH01G227765 1.6 FANTOM5 Ensembl ENCODE 7 +37.5 37531 1.9 HDGF PKNOX1 ZNF133 GLI4 FEZF1 ZNF48 ZNF2 GLIS2 FOS ZNF263 C1orf35 JMJD4 ENSG00000231563 SNAP47 IBA57 SNAP47-AS1 LOC105373289
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000021217 61 1201 AGO1 FEZF1 ZNF2 ZNF48 GLIS2 FOS ZNF548 ZNF263 SP3 TAF15

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

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 :
  • Belongs to the SVAP1 family.
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 --
GO:0005515 protein binding IPI 19546860
GO:0019905 syntaxin binding IBA --
genes like me logo Genes that share ontologies with SNAP47: view

Phenotypes for SNAP47 Gene

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

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNAP47 gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for SNAP47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IBA --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
GO:0030425 dendrite IEA --
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

GO ID Qualified GO term Evidence PubMed IDs
GO:0016082 synaptic vesicle priming IBA --
GO:0031629 synaptic vesicle fusion to presynaptic active zone membrane IBA --
GO:0060291 long-term synaptic potentiation IEA --
GO:0098967 exocytic insertion of neurotransmitter receptor to postsynaptic membrane IEA --
genes like me logo Genes that share ontologies with SNAP47: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SNAP47 Gene



Protein tissue co-expression partners for SNAP47 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SNAP47 Gene:

SNAP47

SOURCE GeneReport for Unigene cluster for SNAP47 Gene:

Hs.325081

Evidence on tissue expression from TISSUES for SNAP47 Gene

  • Nervous system(4.6)
  • Muscle(4.3)
  • Intestine(4.2)
  • Kidney(4.2)
  • Lung(4.2)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with SNAP47: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia SNAP47 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia SNAP47 34 35
  • 80.11 (n)
dog
(Canis familiaris)
Mammalia SNAP47 34
  • 78.47 (n)
-- 35
  • 75 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Snap47 34
  • 76.4 (n)
mouse
(Mus musculus)
Mammalia Snap47 34 16 35
  • 74.43 (n)
oppossum
(Monodelphis domestica)
Mammalia SNAP47 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNAP47 34 35
  • 67.15 (n)
lizard
(Anolis carolinensis)
Reptilia SNAP47 35
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii snap47 34 35
  • 59.5 (n)
Dr.20482 34
Species where no ortholog for SNAP47 was found in the sources mined by GeneCards:
  • 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
rs1000063862 -- 227,779,384(+) GCCAT(A/G)TCACT intron-variant
rs1000114768 -- 227,765,252(+) GGGGT(A/G)TGGGG intron-variant
rs1000119087 -- 227,765,460(+) CAGAG(A/G)AGGGC intron-variant
rs1000195863 -- 227,765,942(+) GAGGG(G/T)GGGGT intron-variant
rs1000199559 -- 227,767,934(+) ATGTT(C/T)AGTGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv294e59 CNV duplication 20981092
esv2724217 CNV deletion 23290073
esv32853 CNV gain 17666407
esv8091 CNV gain 19470904
nsv1007479 CNV gain 25217958
nsv1113224 CNV deletion 24896259
nsv515496 CNV loss 19592680
nsv549272 CNV loss 21841781
nsv826908 CNV gain 20364138

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)

Relevant External Links for SNAP47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNAP47

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  2. Identification of SNAP-47, a novel Qbc-SNARE with ubiquitous expression. (PMID: 16621800) Holt M. … Jahn R. (J. Biol. Chem. 2006) 2 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. 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 64

Products for SNAP47 Gene

Sources for SNAP47 Gene

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