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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. Gene Ontology (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.

Additional gene information for SNAP47 Gene

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

GeneHancer (GH) Regulatory Elements for SNAP47 Gene

Promoters and enhancers for SNAP47 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I227727 Promoter/Enhancer 1.4 Ensembl ENCODE 554.9 +0.2 196 1.8 ZNF2 ZNF48 GLIS2 FOS SP3 REST SNIP1 ZNF292 MYNN GLIS1 SNAP47 PIR45879 CICP26 HIST3H3 ENSG00000269890 C1orf35
GH01I227730 Enhancer 0.6 ENCODE 550.8 +1.2 1216 0.2 USF1 L3MBTL2 BHLHE40 SP2 ZNF335 ZFP69B GLIS2 ZNF692 ZBTB48 POLR2A PIR45879 SNAP47
GH01I227733 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.9 +6.6 6553 2.8 MLX ZFP64 FEZF1 DMAP1 IRF4 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 JMJD4 CICP26 ZNF678 C1orf35 CDC42BPA ENSG00000269890 HIST3H3 SNAP47 MRPL55 IBA57-AS1
GH01I227748 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 12 +20.5 20487 1.8 HDAC1 PKNOX1 ATF1 ZBTB40 ZNF766 E2F8 ATF7 CREM SMARCA5 ZBTB11 SNAP47-AS1 SNAP47 ZNF678 LOC105373289
GH01I227787 Enhancer 1.4 Ensembl ENCODE dbSUPER 11 +59.6 59565 3 ARID4B GLI4 ZNF2 GLIS2 ZNF143 KLF7 KLF13 SP3 MXD4 SMARCB1 LOC105373289 SNAP47 CDC42BPA C1orf35 WNT9A PRSS38
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SNAP47 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SNAP47 gene promoter:

Genomic Locations for SNAP47 Gene

Genomic Locations for SNAP47 Gene
chr1:227,728,539-227,781,231
(GRCh38/hg38)
Size:
52,693 bases
Orientation:
Plus strand
chr1:227,916,240-227,968,932
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for SNAP47 Gene

Domains & Families for SNAP47 Gene

Gene Families for SNAP47 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

Function for SNAP47 Gene

Molecular function for SNAP47 Gene

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

Phenotypes From GWAS Catalog for SNAP47 Gene

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

miRNA for SNAP47 Gene

miRTarBase miRNAs that target SNAP47

Inhibitory RNA 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

Subcellular locations from the

Human Protein Atlas (HPA)

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:

Inhibitory RNA 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)
  • Heart(2.1)
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 33 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia SNAP47 33 34
  • 80.11 (n)
dog
(Canis familiaris)
Mammalia SNAP47 33
  • 78.47 (n)
-- 34
  • 75 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Snap47 33
  • 76.4 (n)
mouse
(Mus musculus)
Mammalia Snap47 33 16 34
  • 74.43 (n)
oppossum
(Monodelphis domestica)
Mammalia SNAP47 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SNAP47 33 34
  • 67.15 (n)
lizard
(Anolis carolinensis)
Reptilia SNAP47 34
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii snap47 33 34
  • 59.5 (n)
Dr.20482 33
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 Variation AA Info Type
rs1000063862 -- 227,779,384(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000114768 -- 227,765,252(+) A/G intron_variant
rs1000119087 -- 227,765,460(+) A/G intron_variant
rs1000195863 -- 227,765,942(+) T/G intron_variant
rs1000199559 -- 227,767,934(+) C/T intron_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for 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 CA … Dell'Angelica EC (Molecular psychiatry 2010) 3 4 58
  2. Identification of SNAP-47, a novel Qbc-SNARE with ubiquitous expression. (PMID: 16621800) Holt M … Jahn R (The Journal of biological chemistry 2006) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for SNAP47 Gene

Sources for SNAP47 Gene

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