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SYN1 Gene

protein-coding   GIFtS: 65
GCID: GC0XM047431

Synapsin I

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include actin binding and transporter 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_079573.5  
Regulatory elements:
   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 Chromatin IP Primers for SYN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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: 

  • 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 terminal1
  • Phosphorylation at Ser-9 dissociates synapsins from synaptic vesicles (By similarity)1
  • Glycosylation2 at Ser55, Thr87, Ser96, Ser103, Ser261, Ser432, Thr526, Thr564, Ser578
  • Modification sites at PhosphoSitePlus

  • See SYN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000295987   ENSP00000343206  
    Reactome Protein details: P17600

    SYN1 Human Recombinant Protein Products:

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    OriGene Purified Protein for SYN1
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    OriGene MassSpec for SYN1
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    GenScript Custom Purified and Recombinant Proteins Services for SYN1
    Novus Biologicals SYN1 Protein
    Novus Biologicals SYN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SYN1

    SYN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SYN1
    R&D Systems Antibodies for SYN1 (Synapsin I)
    Cell Signaling Technology (CST) Antibodies for SYN1 
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    LSBio Antibodies in human, mouse, rat for SYN1

    SYN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SYN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SYN1
    Cloud-Clone Corp. CLIAs for SYN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 6):    About this table

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


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

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

    SYN1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SYN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target SYN1:
    hsa-mir-335-5p (MIRT018882)

    Block miRNA regulation of human, mouse, rat SYN1 using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for SYN1
    Predesigned siRNA for gene silencing in human, mouse, rat SYN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SYN1

    Clone
    Products:
         
    OriGene clones in human, mouse for SYN1 (see all 11)
    OriGene ORF clones in mouse, rat for SYN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SYN1 (NM_133499)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYN1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SYN1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SYN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYN1_HUMAN, P17600: Cell junction, synapse. Golgi apparatus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    cytoskeleton2
    golgi apparatus2
    plasma membrane2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol IEA--
    GO:0008021synaptic vesicle IEA--
    GO:0030054cell junction IEA--
    GO:0030425dendrite IEA--

    SYN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SYN1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Neurotransmitter Release Cycle
    Serotonin Neurotransmitter Release Cycle0.40
    Dopamine Neurotransmitter Release Cycle0.00
    Neurotransmitter Release Cycle0.32
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    3Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    4Neuroscience
    Neuroscience
    5Monoamine Transport
    Monoamine Transport

    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

    2 Reactome Pathways for SYN1
        Dopamine Neurotransmitter Release Cycle
    Serotonin Neurotransmitter Release Cycle



    SYN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SYN1: 
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SYN1

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

    Selected Interacting proteins for SYN1 (P176001, 2, 3 ENSP000002959874) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    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:    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat SYN1 using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for SYN1
    Predesigned siRNA for gene silencing in human, mouse, rat SYN1
    Clone
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    OriGene ORF clones in mouse, rat for SYN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SYN1 (NM_133499)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYN1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SYN1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SYN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SYN1
      QuantiTect SYBR Green Assays in human, mouse, rat SYN1
      QuantiFast Probe-based Assays in human, mouse, rat SYN1

    Additional mRNA sequence: 

    AL833961.1 BC036711.2 BC048799.1 

    4 DOTS entries:

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

    Selected AceView cDNA sequences (see all 82):

    D55951 NM_006950 BM666243 BC048799 BM702792 BQ021547 BM052938 H20397 
    BX409808 BC036711 CA392823 AA904128 AI342002 AA321798 AL833961 NM_133499 
    BX409809 BI964194 AI302039 BV200732 BU145716 BI550498 BI917029 AL529573 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Motor Neurons (Nervous System)
             Motor neuron-like precursor cells
     
     Spinal Cord (Nervous System)
             Motor neuron-like precursor cells
     
     Eye (Sensory Organs)
             Retina
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             B27-induced amniotic-derived mesenchymal stem cells
    SYN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SYN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.225936
        Pathway & Disease-focused RT2 Profiler PCR Array including SYN1: 
              Huntington's Disease in human mouse rat

    Primer
    Products:
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SYN1 gene from Selected species (see all 14)    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
    synapsin I
    59(a)
    1 ↔ 1
    12(4654782-4801935)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    82(a)
    55(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 70.69(n)
    74.37(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
    24(a)
    1 → many
    IV(1805037-1815099) WBGene00004913


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SYN1 (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

    Site Specific Mutation Identification with PCR Assays
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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.)
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    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

  • 17 diseases for SYN1:    About MalaCards
    epilepsy, x-linked, with variable learning disabilities and behavior disorders    learning disability    toxic encephalopathy    rett syndrome
    tetanus    neuroendocrine tumor    neuronitis    huntington's disease
    parkinson's disease    neuroblastoma    schizophrenia    bipolar disorder
    cerebritis    alzheimer's disease    hiv-1    multiple myeloma
    myeloma


    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)
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    PubMed articles for SYN1 gene, integrated from 10 sources (see all 60):
    (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 thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. Phosphoproteomic analysis of synaptosomes from human cerebral cortex. (PubMed id 15822905)1, 2 DeGiorgis J.A.... Dosemeci A. (J. Proteome Res. 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. (J. Med. Genet. 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. (J. Biol. Chem. 1990)
    7. The structure of the human synapsin I gene and protein. (PubMed id 2110562)1, 2 Suedhof T.C. (J. Biol. Chem. 1990)
    8. H3K4 tri-methylation in synapsin genes leads to different expression patterns in bipolar disorder and major depression. (PubMed id 22571925)1 Cruceanu C....Turecki G. (Int. J. Neuropsychopharmacol. 2013)
    9. Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity. (PubMed id 23406870)1 Lignani G....Benfenati F. (Hum. Mol. Genet. 2013)
    10. Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356A9 mutation in synapsin I. (PubMed id 23818987)1 Giannandrea M....Valtorta F. (PLoS ONE 2013)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 6853 HGNC: 11494 AceView: SYN1 Ensembl:ENSG00000008056 euGenes: HUgn6853
    ECgene: SYN1 H-InvDB: SYN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SYN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SYN1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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