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

SYN1 Gene

protein-coding   GIFtS: 64
GCID: GC0XM047431

Synapsin I

Microbiology & Infectious Diseases Congress
  See related diseases
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
Synapsin I1 2 3
Brain Protein 4.12 3
SYN1a2
SYN1b2
SYNI2
synapsin-12

External Ids:    HGNC: 114941   Entrez Gene: 68532   Ensembl: ENSG000000080567   OMIM: 3134405   UniProtKB: P176003   

Export aliases for SYN1 gene to outside databases

Previous GC identifers: GC0XM046235 GC0XM045692 GC0XM046478 GC0XM046477 GC0XM047187 GC0XM047316 GC0XM045143


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

Entrez Gene summary for SYN1 Gene:
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with
the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and
they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role
in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of
axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases
and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene
may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively
spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for SYN1 Gene: 
SYN1 (synapsin I) is a protein-coding gene. Diseases associated with SYN1 include epilepsy, x-linked, with variable learning disabilities and behavior disorders, and learning disability, and among its related super-pathways are Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell and Norepinephrine Neurotransmitter Release Cycle. GO annotations related to this gene include actin binding and catalytic activity. An important paralog of this gene is SYN3.

UniProtKB/Swiss-Prot: SYN1_HUMAN, P17600
Function: Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to
function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is
necessary for specific nitric-oxid functions at a presynaptic level

Gene Wiki entry for SYN1 (Synapsin I) Gene


(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_000023.10  NC_018934.2  NT_079573.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SYN1 gene promoter:
         CREB   Sp1   deltaCREB   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSYN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SYN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYN1


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

Entrez Gene cytogenetic band: Xp11.23   Ensembl cytogenetic band:  Xp11.23   HGNC cytogenetic band: Xp11.2

SYN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYN1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM047431:  view genomic region     (about GC identifiers)

Start:
47,431,300 bp from pter      End:
47,479,256 bp from pter
Size:
47,957 bases      Orientation:
minus 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: SYN1_HUMAN, P17600 (See protein sequence)
Recommended Name: Synapsin-1  
Size: 705 amino acids; 74111 Da
Subunit: Homodimer. Interacts with CAPON. Forms a ternary complex with NOS1. Isoform Ib interacts with PRNP (By
similarity)
Subcellular location: Cell junction, synapse. Golgi apparatus (By similarity)
Secondary accessions: B1AJQ1 O75825 Q5H9A9
Alternative splicing: 2 isoforms:  P17600-1   P17600-2   

Explore the universe of human proteins at neXtProt for SYN1: NX_P17600

Explore proteomics data for SYN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Substrate of at least four different protein kinases. It is probable that phosphorylation plays a role in the
    regulation of synapsin-1 in the nerve terminal
  • UniProtKB: Phosphorylation at Ser-9 dissociates synapsins from synaptic vesicles (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P17600

  • SYN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SYN1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_008881.2  NP_598006.1  

    ENSEMBL proteins: 
     ENSP00000295987   ENSP00000343206  
    Reactome Protein details: P17600
    Human Recombinant Protein Products for SYN1: 
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    Novus Biologicals SYN1 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SYN1 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000795synaptonemal complex ----
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol IEA--
    GO:0008021synaptic vesicle IEA--
    GO:0030054cell junction IEA--

    SYN1 for ontologies           About GeneDecksing



    SYN1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SYN1 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/8 InterPro protein domains (see all 8):
     IPR019735 Synapsin_CS
     IPR020898 Synapsin_ATP-bd_dom
     IPR013815 ATP_grasp_subdomain_1
     IPR020897 Synapsin_pre-ATP-grasp_dom
     IPR019736 Synapsin_P_site

    Graphical View of Domain Structure for InterPro Entry P17600

    ProtoNet protein and cluster: P17600

    1 Blocks protein domain: IPB001359 Synapsin

    UniProtKB/Swiss-Prot: SYN1_HUMAN, P17600
    Domain: The A region binds phospholipids with a preference for negatively charged species (By similarity)
    Similarity: Belongs to the synapsin family


    SYN1 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: SYN1_HUMAN, P17600
    Function: Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to
    function in the regulation of neurotransmitter release. The complex formed with NOS1 and CAPON proteins is
    necessary for specific nitric-oxid functions at a presynaptic level

         Genatlas biochemistry entry for SYN1:
    synapsin I,synaptic vesicle associated phosphoprotein,involved in the fine regulation of neurotransmitter release

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0003824catalytic activity IEA--
    GO:0005215transporter activity TAS2110562
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    SYN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SYN1:
     Increased HPV18 LCR reporter a 

         2 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Syn1):
     behavior/neurological  nervous system 

    SYN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SYN1: Syn1tm1Noh Syn1tm1Sud Syn1tm1Lli

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SYN1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SYN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SYN1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SYN1 

    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate SYN1 (see all 24):
    hsa-miR-448 hsa-miR-539 hsa-miR-1914* hsa-miR-513c hsa-miR-197 hsa-miR-4314 hsa-miR-3131 hsa-miR-3170
    SwitchGear 3'UTR luciferase reporter plasmidSYN1 3' UTR sequence
    Inhib. RNA
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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 SYN1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    2Serotonin Neurotransmitter Release Cycle
    Serotonin Neurotransmitter Release Cycle0.60
    Dopamine Neurotransmitter Release Cycle0.60
    3GABA synthesis, release, reuptake and degradation
    Neurotransmitter Release Cycle0.53
    4Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    5Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SYN1
        Neuroscience

    3 BioSystems Pathways for SYN1
        BDNF signaling pathway
    Monoamine Transport
    Synaptic Vesicle Pathway

    5        Reactome Pathways for SYN1
        Dopamine Neurotransmitter Release Cycle
    Transmission across Chemical Synapses
    Neurotransmitter Release Cycle
    Neuronal System
    Serotonin Neurotransmitter Release Cycle



    SYN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SYN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/48 Interacting proteins for SYN1 (P176002, 3 ENSP000002959874) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VIMP086702, 3, ENSP000002242374MINT-63519 I2D: score=5 STRING: ENSP00000224237
    KAT5Q929932, 3, ENSP000003403304MINT-63520 I2D: score=5 STRING: ENSP00000340330
    BIN1O004993, ENSP000003167794I2D: score=3 STRING: ENSP00000316779
    CRKP461083, ENSP000003005744I2D: score=3 STRING: ENSP00000300574
    PIK3R1P279863, ENSP000002743354I2D: score=3 STRING: ENSP00000274335
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS2110562
    GO:0007269neurotransmitter secretion IEA--

    SYN1 for ontologies           About GeneDecksing



    (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 SYN1

    1 DrugBank Compound for SYN1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate Monothiophosphate-- --target--17139284 17016423 10592235

    Search CenterWatch for drugs/clinical trials and news about SYN1

    (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 SYN1 gene (2 alternative transcripts): 
    NM_006950.3  NM_133499.2  

    Unigene Cluster for SYN1:

    Synapsin I
    Hs.225936  [show with all ESTs]
    Unigene Representative Sequence: BC048799
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295987(uc004die.3) ENST00000340666(uc004did.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate SYN1 (see all 24):
    hsa-miR-448 hsa-miR-539 hsa-miR-1914* hsa-miR-513c hsa-miR-197 hsa-miR-4314 hsa-miR-3131 hsa-miR-3170
    SwitchGear 3'UTR luciferase reporter plasmidSYN1 3' UTR sequence
    Inhib. RNA
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SYN1
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    Additional mRNA sequence: 

    AL833961.1 BC036711.2 BC048799.1 

    4 DOTS entries:

    DT.95274742  DT.92426489  DT.121285014  DT.100751084 

    24/82 AceView cDNA sequences (see all 82):

    D55951 CA392823 NM_006950 BM702792 AL833961 NM_133499 BQ021547 AA904128 
    BM052938 BC036711 AI342002 BM666243 AA321798 BX409809 BX409808 H20397 
    BC048799 BG707188 BM925954 BF948410 BE261166 AI124526 AI598145 BG912972 

    GeneLoc Exon Structure


    (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

    SYN1 expression in normal human tissues (normalized intensities)      SYN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATCTTCCAT
    SYN1 Expression
    About this image


    SYN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Amygdala
             postcentral gyrus   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Matured motor neuron-like cells ( Generation of oligodendrocytes and spinal motor...
             spinal/ganglion/dorsal root ganglion   
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             visceral organ/oral region/upper jaw   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Neuron (Nervous System)
             Matured motor neuron-like cells ( Generation of oligodendrocytes and spinal motor...

    See SYN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SYN1

    SOURCE GeneReport for Unigene cluster: Hs.225936
        SABiosciences Expression via Pathway-Focused PCR Array including SYN1: 
              Huntington's Disease in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYN1

    (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 animals.

    Orthologs for SYN1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Syn11 , 5 synapsin I1, 5 89.93(n)1
    96.31(a)1
      X (16.37 cM)5
    209641  NM_013680.41  NP_038708.31 
     208605115 
    chicken
    (Gallus gallus)
    Aves SYN16
    Uncharacterized protein
    53(a)
    1 ↔ 1
    12(4654782-4801935)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    82(a)
    63(a)
    many → 1
    many → 1
    2(68242354-68257534)
    2(68138387-68157352)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.215312 Xenopus laevis synapsin I (SYN I) mRNA, partial cds 84.45(n)    AF192751.1 
    zebrafish
    (Danio rerio)
    Actinopterygii syn11 synapsin I 66(n)
    68(a)
      570672  NM_001126437.2  NP_001119909.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Syn3 neurotransmitter secretion 44(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea snn-16
    Protein SNN-1, isoform b
    25(a)
    1 → many
    IV(1805037-1815099)


    ENSEMBL Gene Tree for SYN1 (if available)
    TreeFam Gene Tree for SYN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SYN1 gene
    SYN32  
    3 SIMAP similar genes for SYN1 using alignment to 1 protein entry:     SYN1_HUMAN:
    syn2    SYN2    SYN3

    SYN1 for paralogs           About GeneDecksing



    (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

    10/750 SNPs in SYN1 are shown (see all 750)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1837899091,2
    --47350417(+) GCCTTA/GCCCAC 2 -- ds50010--------
    rs1125683751,2
    F--47350539(+) ACCCCT/CGCCAA 2 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs1931447291,2
    --47350721(+) AGCACC/TCCATG 2 -- ds50010--------
    rs10501751,2
    C--47350783(+) TCTTTC/TTTCAC 2 -- ds50012Minor allele frequency- T:0.00NA 4
    rs1488148951,2
    C--47350975(+) ACCACA/GTATGC 2 -- ut310--------
    rs1856767931,2
    --47351065(+) CTTCCA/GTGTGC 2 -- ut310--------
    rs28551361,2
    C--47351207(+) GGTTGA/CGGGGA 2 -- ut31 ese31Minor allele frequency- C:0.00NA 2
    rs1901003861,2
    --47351465(+) AAAACA/GCCCTC 2 -- ut310--------
    rs1817763231,2
    --47351560(+) AAAAGG/TACTTG 2 -- ut310--------
    rs1133732591,2
    F--47351626(+) GTACTT/CGGGGA 2 -- ut311Minor allele frequency- C:0.00CSA 1

    HapMap Linkage Disequilibrium report for SYN1 (47431300 - 47479256 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SYN1: --

    Human Gene Mutation Database (HGMD): SYN1

    Locus Specific Mutation Databases (LSDB): SYN1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SYN1
    DNA2.0 Custom Variant and Variant Library Synthesis for SYN1

    (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
    OMIM gene information: 313440   
    OMIM disorders: 300491  
    UniProtKB/Swiss-Prot: SYN1_HUMAN, P17600
  • Epilepsy X-linked, with variable learning disabilities and behavior disorders (XELBD) [MIM:300491]: A
    neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and
    aggressive behavior. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for SYN1:    About MalaCards
    epilepsy, x-linked, with variable learning disabilities and behavior disorders    learning disability    rett syndrome    toxic encephalopathy
    tetanus    neuroendocrine tumor    huntington's disease    neuronitis
    parkinson's disease    neuroblastoma    cerebritis    alzheimer's disease
    schizophrenia


    SYN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SYN1
    Human Genome Epidemiology (HuGE) Navigator: SYN1 (4 documents)

    Export disorders for SYN1 gene to outside databases

    (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 SYN1 gene, integrated from 9 sources (see all 58):
    (articles sorted by number of sources associating them with SYN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    2. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (2008)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    4. Phosphoproteomic analysis of synaptosomes from human cerebral cortex. (PubMed id 15822905)1, 2 DeGiorgis J.A.... Dosemeci A. (2005)
    5. Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. (PubMed id 14985377)1, 2 Garcia C.C.... Goodship J.A. (2004)
    6. The 5'-flanking region of the synapsin I gene. A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function. (PubMed id 2118519)1, 2 Sauerwald A.... Kilimann M.W. (1990)
    7. The structure of the human synapsin I gene and protein. (PubMed id 2110562)1, 2 Suedhof T.C. (1990)
    8. H3K4 tri-methylation in synapsin genes leads to differ ent expression patterns in bipolar disorder and major depression. (PubMed id 22571925)1 Cruceanu C....Turecki G. (2013)
    9. Specificity protein 1 (Sp1)-dependent activation of th e synapsin I gene (SYN1) is modulated by RE1-silencing transcription factor (RES T) and 5'-cytosine-phosphoguanine (CpG) methylation. (PubMed id 23250796)1 Paonessa F....Benfenati F. (2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6853 HGNC: 11494 AceView: SYN1 Ensembl:ENSG00000008056 euGenes: HUgn6853
    ECgene: SYN1 H-InvDB: SYN1

    (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 SYN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SYN1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SYN1 gene:
    Search GeneIP for patents involving SYN1

    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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