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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SNAP47 Gene

protein-coding   GIFtS: 47
GCID: GC01P227917

Synaptosomal-Associated Protein, 47kDa

(Previous name: chromosome 1 open reading frame 142)
(Previous symbol: C1orf142)
  Search for SNAP47
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Synaptosomal-Associated Protein, 47kDa1 2     SNAP-472 3
C1orf1421 2 3     SVAP12 3
Epididymis Luminal Protein 1702 3     Chromosome 1 Open Reading Frame 1421
Synaptosomal-Associated 47 KDa Protein2 3     Synaptosomal-Associated Protein 472
HEL1702 3     

External Ids:    HGNC: 306691   Entrez Gene: 1168412   Ensembl: ENSG000001437407   UniProtKB: Q5SQN13   

Export aliases for SNAP47 gene to outside databases

Previous GC identifers: GC01P225984 GC01P198439


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SNAP47 Gene: 
SNAP47 (synaptosomal-associated protein, 47kDa) is a protein-coding gene. Among its related super-pathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: SNP47_HUMAN, Q5SQN1
Function: Plays a role in intracellular membrane fusion (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SNAP47 gene promoter:
         LHX3b/Lhx3b   AML1a   AREB6   POU2F1   POU2F1a   FOXO4   Sox9   LHX3a/Lhx3a   ATF6   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SNAP47

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SNAP47


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42.13   Ensembl cytogenetic band:  1q42.13   HGNC cytogenetic band: 1q42.13

SNAP47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SNAP47 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P227917:  view genomic region     (about GC identifiers)

Start:
227,916,240 bp from pter      End:
227,968,932 bp from pter
Size:
52,693 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SNP47_HUMAN, Q5SQN1 (See protein sequence)
Recommended Name: Synaptosomal-associated protein 47  
Size: 464 amino acids; 52562 Da
Subunit: Forms a complex containing SNAP47, VAMP2 and STX1A (By similarity). Associates with the BLOC-1 complex.
Interacts with BLOC1S6
Subcellular location: Endomembrane system (By similarity). Cytoplasm, perinuclear region (By similarity).
Note=Appears to be exclusively membrane-bound (By similarity)
Sequence caution: Sequence=BAB70779.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B6EDE0 Q5HYB5 Q5TBZ3 Q8N558 Q8TB31 Q8TCW8 Q8WV46 Q96CQ3 Q96FE1 Q96I66
Q96NU3 Q9BT10 Q9BVB2
Alternative splicing: 4 isoforms:  Q5SQN1-1   Q5SQN1-2   Q5SQN1-3   Q5SQN1-4   

Explore the universe of human proteins at neXtProt for SNAP47: NX_Q5SQN1

Explore proteomics data for SNAP47 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5SQN1

  • SNAP47 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SNAP47 Protein Expression
    REFSEQ proteins: NP_444280.2  
    ENSEMBL proteins: 
     ENSP00000355722   ENSP00000355721   ENSP00000402730   ENSP00000411128   ENSP00000475207  
     ENSP00000314157  

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    Cloud-Clone Corp. Proteins for SNAP47 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0012505endomembrane system IEA--
    GO:0016020membrane IEA--
    GO:0031083colocalizes with BLOC-1 complex IDA19546860
    GO:0048471perinuclear region of cytoplasm IEA--

    SNAP47 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000727 T_SNARE_dom

    Graphical View of Domain Structure for InterPro Entry Q5SQN1

    ProtoNet protein and cluster: Q5SQN1

    UniProtKB/Swiss-Prot: SNP47_HUMAN, Q5SQN1
    Similarity: Belongs to the SVAP1 family
    Similarity: Contains 2 t-SNARE coiled-coil homology domains


    SNAP47 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SNP47_HUMAN, Q5SQN1
    Function: Plays a role in intracellular membrane fusion (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19546860
         
    SNAP47 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Snap47):
     hematopoietic system  skeleton 

    SNAP47 for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SNAP47 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics
    SNARE interactions in vesicular transport0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for SNAP47):
        SNARE interactions in vesicular transport


    SNAP47 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SNAP47

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for SNAP47 (Q5SQN13 ENSP000003557214) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NSFP464593I2D: score=1 
    SNAP29ENSP000002157304STRING: ENSP00000215730
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SNAP47 (SNP47)

    Search CenterWatch for drugs/clinical trials and news about SNAP47 / SNP47

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SNAP47 gene: 
    NM_053052.3  

    Unigene Cluster for SNAP47:

    Synaptosomal-associated protein, 47kDa
    Hs.325081  [show with all ESTs]
    Unigene Representative Sequence: AK054633
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480897(uc001hqx.4 uc001hqy.4) ENST00000480265 ENST00000475930
    ENST00000366760(uc001hra.2) ENST00000491439 ENST00000366759(uc001hrf.2)
    ENST00000418653(uc001hre.3) ENST00000426344(uc001hrd.3) ENST00000470038
    ENST00000606873 ENST00000478768 ENST00000315781
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK054633.1 AY090635.2 AY358188.1 BC001332.1 BC004418.1 BC007786.2 BC011145.1 BC014059.2 
    BC018760.1 BC025231.1 BX648570.1 FJ236305.1 

    18 DOTS entries:

    DT.95160338  DT.100834422  DT.100834433  DT.100834424  DT.100834442  DT.100834432  DT.100834441  DT.40298067 
    DT.100834444  DT.101965331  DT.100763515  DT.100834434  DT.91760117  DT.100834447  DT.91760118  DT.95160324 
    DT.425850  DT.95160318 

    24/262 AceView cDNA sequences (see all 262):

    BM560147 AA678718 AI572849 BM693158 BM465127 BQ222616 BU542842 BM927080 
    BG775121 BQ647049 BC014059 BQ719824 BM006205 BC018760 CK904303 AI204239 
    BU849669 CR606698 AY090635 BM708007 CR626436 BC004418 T31965 BU542574 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SNAP47    About this scheme

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


    ECgene alternative splicing isoforms for SNAP47

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SNAP47 expression in normal human tissues (normalized intensities)      SNAP47 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGCATCTT
    SNAP47 Expression
    About this image


    SNAP47 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer

    See SNAP47 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SNAP47

    SOURCE GeneReport for Unigene cluster: Hs.325081
        SABiosciences Custom PCR Arrays for SNAP47
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SNAP47 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Snap471 , 5 synaptosomal-associated protein, 471, 5 74.43(n)1
    68.2(a)1
      11 (37.70 cM)5
    678261  NM_144521.21  NP_653104.11 
     594071345 
    chicken
    (Gallus gallus)
    Aves SNAP471 synaptosomal-associated protein, 47kDa 67.15(n)
    60.91(a)
      420399  XM_418505.3  XP_418505.3 
    lizard
    (Anolis carolinensis)
    Reptilia SNAP476
    Uncharacterized protein
    58(a)
    1 ↔ 1
    GL343449.1(447546-480791)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480295532   -- 81.91(n)    48029553 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.204822 Transcribed sequences 73.4(n)    57061762 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/999 SNPs in SNAP47 are shown (see all 999)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1901859181,2
    --227925283(+) ATTTAC/TTCTTA 1 -- int10--------
    rs1385357741,2
    C--227925426(+) GGAGGA/GAGGAC 1 -- int10--------
    rs2017638321,2
    --227925506(+) GAGAG-/TTGTT 
     TTGGGGA
    TTGTT
    1 -- cds10--------
    rs1813370031,2
    --227925522(+) GATTGA/TGTGAT 1 -- int10--------
    rs2000261301,2
    C--227925522(+) ATTGT-/TTTG/TT
    TGGGGATTGT
    GTGAT
    2 -- int1 cds10--------
    rs781697141,2
    C,F--227925540(+) GTGCTA/GTGGTC 1 -- int12Minor allele frequency- G:0.13CSA WA 120
    rs2015122121,2
    C--227925573(-) TCACAA/CAAGCC 1 -- int10--------
    rs1864148791,2
    --227925603(+) ATTGGA/GGTTTT 1 -- int10--------
    rs1908020391,2
    --227925630(+) CAGAAA/TGTCTG 1 -- int10--------
    rs1402143731,2
    C--227925635(+) TGTCTA/GGAGAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SNAP47 (227916240 - 227968932 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SNAP47:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724217CNV Deletion23290073
    nsv873249CNV Loss21882294
    nsv515496CNV Loss19592680
    esv32853CNV Gain17666407
    esv8091CNV Gain19470904
    nsv826908CNV Gain20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SNAP47 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with SNAP47)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The dysbindin-containing complex (BLOC-1) in brain: d evelopmental regulation, interaction with SNARE proteins and role in neurite ou tgrowth. (PubMed id 19546860)1, 2 Ghiani C.A....Dell'Angelica E.C. (2010)
    2. Identification of SNAP-47, a novel Qbc-SNARE with ubiquitous expression. (PubMed id 16621800)1, 3 Holt M....Jahn R. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 116841 HGNC: 30669 AceView: IMAGE3451454 Ensembl:ENSG00000143740 euGenes: HUgn116841
    ECgene: SNAP47 Kegg: 116841 H-InvDB: SNAP47

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SNAP47 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SNAP47 gene:
    Search GeneIP for patents involving SNAP47

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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