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SYT1 Gene

protein-coding   GIFtS: 68
GCID: GC12P079232

Synaptotagmin I


(Previous symbols: SYT, SVP65)
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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
Synaptotagmin I1 2 3     synaptotagmin-12
SVP651 2 3     sytI2
SYT1 2 3     SytI3
P652     p653
Synaptotagmin 12     

External Ids:    HGNC: 115091   Entrez Gene: 68572   Ensembl: ENSG000000677157   OMIM: 1856055   UniProtKB: P215793   

Export aliases for SYT1 gene to outside databases

Previous GC identifers: GC12P079621 GC12P078113 GC12P078076 GC12P077760 GC12P076312


(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 SYT1 Gene:
The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the
process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering
neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 (PubMed 11242035)).(supplied by OMIM, Jul
2010)

GeneCards Summary for SYT1 Gene:
SYT1 (synaptotagmin I) is a protein-coding gene. Diseases associated with SYT1 include mast-cell leukemia, and lambert-eaton myasthenic syndrome. GO annotations related to this gene include phospholipid binding and calcium ion binding. An important paralog of this gene is SYT15.

UniProtKB/Swiss-Prot: SYT1_HUMAN, P21579
Function: May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the
active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both
an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative
receptors for activated protein kinase C has also been reported. It can bind to at least three additional
proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2

Gene Wiki entry for SYT1 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_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SYT1 gene promoter:
         Nkx3-1 v2   Nkx3-1   MEF-2A   ISGF-3   Nkx3-1 v3   Nkx3-1 v1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSYT1 promoter sequence
   Search Chromatin IP Primers for SYT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SYT1


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

Entrez Gene cytogenetic band: 12cen-q21   Ensembl cytogenetic band:  12q21.2   HGNC cytogenetic band: 12q21.2

SYT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYT1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P079232:  view genomic region     (about GC identifiers)

Start:
79,257,773 bp from pter      End:
79,845,788 bp from pter
Size:
588,016 bases      Orientation:
plus 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: SYT1_HUMAN, P21579 (See protein sequence)
Recommended Name: Synaptotagmin-1  
Size: 422 amino acids; 47573 Da
Cofactor: Binds 3 calcium ions per subunit. The ions are bound to the C2 domains (By similarity)
Subunit: Homotetramer (Probable). Interacts with SCAMP5, STON2, SV2A, SV2B, SV2C and RIMS1. Forms a complex with
SV2B, syntaxin 1 and SNAP25 (By similarity)
Selected PDB 3D structures from and Proteopedia for SYT1 (see all 11):
2K45 (3D)        2K4A (3D)        2K8M (3D)        2KI6 (3D)        2LHA (3D)        2R83 (3D)    
Secondary accessions: Q6AI31

Explore the universe of human proteins at neXtProt for SYT1: NX_P21579

Explore proteomics data for SYT1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn25
  • Modification sites at PhosphoSitePlus

  • See SYT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001129277.1  NP_001129278.1  NP_005630.1  

    ENSEMBL proteins: 
     ENSP00000376932   ENSP00000261205   ENSP00000391056   ENSP00000447035   ENSP00000448964  
     ENSP00000450321   ENSP00000447656   ENSP00000447575   ENSP00000448861   ENSP00000401559  
     ENSP00000449415  
    Reactome Protein details: P21579

    SYT1 Human Recombinant Protein Products:

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    Novus Biologicals SYT1 Protein
    Novus Biologicals SYT1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for SYT1
    Cloud-Clone Corp. Proteins for SYT1

    SYT1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SYT1
    R&D Systems Antibodies for SYT1 (Synaptotagmin-1)
    Cell Signaling Technology (CST) Antibodies for SYT1 
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    Abcam antibodies for SYT1 (P21579, Q9BQG1)
    Cloud-Clone Corp. Antibodies for SYT1
    ThermoFisher Antibodies for SYT1
    LSBio Antibodies in human, mouse, rat for SYT1

    SYT1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SYT1
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    Cloud-Clone Corp. ELISAs for SYT1
    Cloud-Clone Corp. CLIAs for SYT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SYT: Synaptotagmins

    3 InterPro protein domains:
     IPR001565 Synaptotagmin
     IPR000008 C2_dom
     IPR015428 Synaptotagmin1/2

    Graphical View of Domain Structure for InterPro Entry P21579

    ProtoNet protein and cluster: P21579

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB001565 Synaptotagmin signature


    UniProtKB/Swiss-Prot: SYT1_HUMAN, P21579
    Domain: The first C2 domain mediates Ca(2+)-dependent phospholipid binding
    Domain: The second C2 domain mediates interaction with SV2A and STN2 (By similarity)
    Similarity: Belongs to the synaptotagmin family
    Similarity: Contains 2 C2 domains


    SYT1 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: SYT1_HUMAN, P21579
    Function: May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the
    active zone of the synapse. It binds acidic phospholipids with a specificity that requires the presence of both
    an acidic head group and a diacyl backbone. A Ca(2+)-dependent interaction between synaptotagmin and putative
    receptors for activated protein kinase C has also been reported. It can bind to at least three additional
    proteins in a Ca(2+)-independent manner; these are neurexins, syntaxin and AP2

         Genatlas biochemistry entry for SYT1:
    synaptotagmin 1,multifunctional intrinsic membrane protein of synaptic vesicles and chromaffin
    granules,associating with FGF1 and S100A3 and mediating FGF1 release,involved in exocytosis and endocytosis

         Gene Ontology (GO): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000149SNARE binding ----
    GO:0001786phosphatidylserine binding IEA--
    GO:0005215transporter activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI11438518
         
    SYT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SYT1:
     G0/1 arrest  Increased G1 DNA content 

         5 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Syt1):
     behavior/neurological  endocrine/exocrine gland  mortality/aging  nervous system  normal 

    SYT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Syt1tm1Sud for SYT1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SYT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SYT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SYT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SYT1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SYT1:
    hsa-mir-34a-5p (MIRT006304), hsa-mir-335-5p (MIRT017696)

    Block miRNA regulation of human, mouse, rat SYT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SYT1 (see all 130):
    hsa-miR-193a-3p hsa-miR-146a hsa-miR-128 hsa-miR-519a hsa-miR-298 hsa-miR-200b hsa-miR-92b hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidSYT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SYT1
    Predesigned siRNA for gene silencing in human, mouse, rat SYT1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SYT1

    Clone
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    OriGene clones in human, mouse for SYT1 (see all 17)
    OriGene ORF clones in mouse, rat for SYT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SYT1 (NM_001135805)
    Sino Biological Human cDNA Clone for SYT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYT1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SYT1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SYT1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYT1


    (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
    SYT1_HUMAN, P21579: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass membrane
    protein. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane; Single-pass membrane protein.
    Cytoplasm. Note=Synaptic vesicles and chromaffin granules
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    endoplasmic reticulum2
    cytoskeleton1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane TAS--
    GO:0008021synaptic vesicle TAS11438518
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    SYT1 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 SYT1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Neurotransmitter Release Cycle
    Serotonin Neurotransmitter Release Cycle0.40
    GABA synthesis, release, reuptake and degradation0.00
    Effects of Botulinum toxin0.40
    Glutamate Neurotransmitter Release Cycle0.00
    Neurotransmitter Release Cycle0.32
    Dopamine Neurotransmitter Release Cycle0.00
    Acetylcholine Neurotransmitter Release Cycle0.00
    Norepinephrine Neurotransmitter Release Cycle0.00
    2Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    4Neuroscience
    Neuroscience
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for SYT1
        Ca, cAMP and Lipid Signaling
    Neuroscience

    2 BioSystems Pathways for SYT1
        Synaptic Vesicle Pathway
    Effects of Botulinum toxin


    Selected Reactome Pathways for SYT1 (see all 8)
        Acetylcholine Neurotransmitter Release Cycle
    Toxicity of botulinum toxin type B (BoNT/B)
    Toxicity of botulinum toxin type G (BoNT/G)
    GABA synthesis, release, reuptake and degradation
    Serotonin Neurotransmitter Release Cycle


    1 Kegg Pathway  (Kegg details for SYT1):
        Synaptic vesicle cycle


    SYT1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SYT1: 
              Parkinson's Disease in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SYT1

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

    Selected Interacting proteins for SYT1 (P215791, 2, 3 ENSP000002612054) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STON2Q8WXE92, 3, ENSP000002675404MINT-6179779 I2D: score=3 STRING: ENSP00000267540
    ENSG00000229432Q6UXA73, ENSP000003994364I2D: score=1 STRING: ENSP00000399436
    C6orf15Q6UXA73I2D: score=1 
    ENSG00000206461Q6UXA73I2D: score=1 
    ENSG00000224105Q6UXA73I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005513detection of calcium ion TAS11438518
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS11438518
    GO:0014047glutamate secretion TAS--
    GO:0016079synaptic vesicle exocytosis IEA--

    SYT1 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 SYT1

    1 HMDB Compound for SYT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for SYT1 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 65.3 173 16352718 (6), 16595652 (5), 9570782 (5), 9819203 (4) (see all 74)
    inositol 1,3,4,5,6-pentakisphosphate 61.6 2 7479869 (1), 7592870 (1)
    phosphatidylserine 61.1 12 16093350 (3), 15628842 (2), 12657370 (1), 17182843 (1) (see all 5)
    phospholipid 55 23 8253763 (4), 16595652 (3), 7961798 (3), 9730811 (2) (see all 13)
    phytate 41.2 4 7479869 (1), 7592870 (1), 12220627 (1)
    polyphosphates 41 1 10358928 (1)
    inositol 1,3,4,5-tetrakisphosphate 39.2 2 7479869 (1), 7592870 (1)
    lysine 34.6 11 8454654 (2), 11413542 (2), 9570782 (1), 16987956 (1) (see all 5)
    catecholamine 28.2 1 16467400 (1)
    lipid 24.8 9 10466723 (2), 18956883 (1), 14718921 (1), 12963743 (1) (see all 6)



    SYT1 for compounds           About GeneDecksing



    (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 SYT1 gene (3 alternative transcripts): 
    NM_001135805.1  NM_001135806.1  NM_005639.2  

    Unigene Cluster for SYT1:

    Synaptotagmin I
    Hs.310545  [show with all ESTs]
    Unigene Representative Sequence: NM_001135805
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393240 ENST00000261205(uc001sys.3 uc001syt.3 uc001syu.3 uc001syv.3)
    ENST00000457153 ENST00000552074 ENST00000549454 ENST00000547046 ENST00000549671
    ENST00000551304 ENST00000552744 ENST00000552624 ENST00000446242 ENST00000549559


    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SYT1 (see all 130):
    hsa-miR-193a-3p hsa-miR-146a hsa-miR-128 hsa-miR-519a hsa-miR-298 hsa-miR-200b hsa-miR-92b hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidSYT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SYT1
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): SYT1 (NM_001135805)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SYT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SYT1
    Primer
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    OriGene qPCR primer pairs and template standards for SYT1
    OriGene qSTAR qPCR primer pairs in human, mouse for SYT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SYT1
      QuantiTect SYBR Green Assays in human, mouse, rat SYT1
      QuantiFast Probe-based Assays in human, mouse, rat SYT1

    Additional mRNA sequence: 

    AK094616.1 AK123228.1 AK126908.1 AK308743.1 BC041373.1 BC051915.1 BC058917.1 BX647240.1 
    CR627387.1 M55047.1 U19921.1 

    16 DOTS entries:

    DT.95246363  DT.417277  DT.100784215  DT.121170891  DT.121171028  DT.121171129  DT.99966863  DT.91741526 
    DT.95262040  DT.100784214  DT.121170848  DT.121170851  DT.121170887  DT.121609153  DT.91741527  DT.121171098 

    Selected AceView cDNA sequences (see all 143):

    F03778 BM666812 BM723059 BM704004 AK094616 BQ185324 CB153193 AI498885 
    BG149946 BQ638361 BX471814 F07542 BQ717351 F02718 BM693420 BM679311 
    AW205282 AA558912 AV726378 F02120 F07727 BQ188155 AA758264 AL119857 

    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)
    About This Section

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    SYT1 expression in normal human tissues (normalized intensities)      SYT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACCCTTCTG
    SYT1 Expression
    About this image


    SYT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Endothelial Cells Blood Brain Barrier
             Thalamus
             Ventral/hypothalamic-like neurons
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Juxtaglomerular Cells Afferent Arteriole
             Metanephros
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 4D20.8, NCr-fac Progenitor
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
    SYT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SYT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.310545
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SYT1: 
              Parkinson's Disease in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SYT1
    OriGene qSTAR qPCR primer pairs in human, mouse for SYT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SYT1
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    QuantiFast Probe-based Assays in human, mouse, rat SYT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYT1

    (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 SYT1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Syt11 , 5 synaptotagmin I1, 5 90.18(n)1
    97.86(a)1
      10 (56.52 cM)5
    209791  NM_001252341.11  NP_001239270.11 
     1084976505 
    chicken
    (Gallus gallus)
    Aves SYT11 synaptotagmin I 86.1(n)
    95.73(a)
      396083  NM_205171.1  NP_990502.1 
    lizard
    (Anolis carolinensis)
    Reptilia SYT16
    synaptotagmin I
    92(a)
    1 ↔ 1
    5(37670201-37799174)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ731289.12   -- 73.83(n)    BQ731289.1 
    zebrafish
    (Danio rerio)
    Actinopterygii syt1a6
    synaptotagmin Ia
    83(a)
    1 ↔ 1
    4(20141972-20251089) ENSDARG00000030614
    fruit fly
    (Drosophila melanogaster)
    Insecta syt3
    Syt11
    larval locomotory behavior
    calcium-dependent phospholipid more3
    Synaptotagmin 11
    69(a)
    (best of 3)3
    63.76(n)1
    66.01(a)1
      334731  NM_164502.21  NP_722839.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y75B7AL.33
    snt-11
    snt-11 64(a)
    (best of 5)3
    61.67(n)1
    61.31(a)1
      V(1357344-1361139)3
    1741201  NM_062993.61  NP_495394.31 


    ENSEMBL Gene Tree for SYT1 (if available)
    TreeFam Gene Tree for SYT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SYT1 gene
    SYT152  SYT42  SYT52  SYT92  SYT82  SYT102  SYT32  SYT62  
    SYT172  SYT112  SYT122  SYT22  SYT72  
    Selected SIMAP similar genes for SYT1 using alignment to 9 protein entries:     SYT1_HUMAN (see all proteins) (see all similar genes):
    SYT2    SYT5    SYT3    SYT6    SYT9    SYT10
    SYT7    SYT17    SYT4    SYT11    SYT14L    SYT8
    RPH3A    DKFZp434D2429    ESYT2    CHR11SYT    DOC2B    SYT15

    SYT1 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 SYT1 (see all 10576)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs576806911,2
    C--76791639(+) TTTTT-/T/TTT 
            
    GAGAC
    3 -- int11NA 2
    rs633978601,2
    C--76899845(+) GTTCC-/GTGT  
            
    GTGTG
    3 -- ut310--------
    rs1444386381,2
    --79255817(+) CTCTCC/TCTTTG 1 -- us2k10--------
    rs1465971501,2
    --79255825(+) TTGTCC/TCTACA 1 -- us2k10--------
    rs1862333931,2
    --79256088(+) TTAAGC/TACAAT 1 -- us2k10--------
    rs1909513881,2
    --79256241(+) GAAAAG/TAAATT 1 -- us2k10--------
    rs111116181,2
    C,F--79256320(+) GACTAA/CTTTAT 1 -- us2k13Minor allele frequency- C:0.10WA 122
    rs1413104611,2
    --79256355(+) TACATA/GCAGCT 1 -- us2k10--------
    rs128214911,2
    C,F,H--79256620(+) TCCTGT/CCGTTT 2 -- us2k1 tfbs37Minor allele frequency- C:0.00NS EA NA 420
    rs784407691,2
    C,F--79256899(+) ATCACG/ATTGCC 2 -- us2k11Minor allele frequency- A:0.11WA 118

    HapMap Linkage Disequilibrium report for SYT1 (79257773 - 79507773 bp, first 250kb of SYT1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SYT1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672330CNV Deletion23128226
    esv2746111CNV Deletion23290073
    esv2660779CNV Deletion23128226
    esv269546CNV Insertion20981092
    nsv507658CNV Insertion20534489
    esv1006890CNV Insertion20482838
    nsv507657CNV Insertion20534489
    esv1290661CNV Insertion17803354
    nsv832466CNV Loss17160897
    nsv899335CNV Loss21882294

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 185605    OMIM disorders: --

    Selected diseases for SYT1 (see all 27):    About MalaCards
    mast-cell leukemia    lambert-eaton myasthenic syndrome    botulism    tauopathy
    tetanus    synovial sarcoma    attention deficit hyperactivity disorder    insulinoma
    pituitary adenoma    pulmonary function    t-cell leukemia    down syndrome
    alzheimer's disease    adenoma    mental retardation    sarcoma
    parkinson's disease    neuroblastoma    leukemia    cervicitis

    1 disease from the University of Copenhagen DISEASES database for SYT1:
    Lambert-Eaton myasthenic syndrome

    SYT1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for SYT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 1.53 2 18187402 (1), 17308960 (1)
    epilepsy 0 10 18779938 (5)
    tetanus 0 1 15123599 (1)
    alzheimers disease 0 1 11244216 (1)

    Genetic Association Database (GAD): SYT1
    Human Genome Epidemiology (HuGE) Navigator: SYT1 (4 documents)

    Export disorders for SYT1 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 SYT1 gene, integrated from 10 sources (see all 281):
    (articles sorted by number of sources associating them with SYT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans. (PubMed id 1840599)1, 2, 3, 9 Perin M.S....Suedhof T.C. (J. Biol. Chem. 1991)
    2. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. (PubMed id 20222955)1, 4, 9 Pattaro C....Pramstaller P.P. (BMC Med. Genet. 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. (PubMed id 19557857)1, 4 Hamdan F.F....Michaud J.L. (Ann. Neurol. 2009)
    5. Human SCAMP5, a novel secretory carrier membrane protein, facilitates calcium-triggered cytokine secretion by interaction with SNARE machinery. (PubMed id 19234194)1, 2 Han C.... Cao X. (J. Immunol. 2009)
    6. Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder. (PubMed id 18937294)1, 4 Lasky-Su J....Faraone S.V. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Altered expression of synaptotagmin I in temporal lobe tissue of patients with refractory epilepsy. (PubMed id 18779938)1, 9 Xiao Z....Sun H.B. (J. Mol. Neurosci. 2009)
    10. The c2 domains of human synaptotagmin 1 have distinct mechanical properties. (PubMed id 19186144)1, 9 Fuson K.L....Oberhauser A.F. (Biophys. J. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 6857 HGNC: 11509 AceView: SYT1 Ensembl:ENSG00000067715 euGenes: HUgn6857
    ECgene: SYT1 Kegg: 6857 H-InvDB: SYT1

    (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)
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    NameDescription
    PharmGKB entry for SYT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SYT1 gene:
    Search GeneIP for patents involving SYT1

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



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