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

SYT1 Gene

protein-coding   GIFtS: 64
GCID: GC12P079232

synaptotagmin I


(Previous symbols: SYT, SVP65)
 Explore 25 diseases affiliated with
SYT1 via our new
 Human Malady Compendium 
Biological research products
for SYT1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Synaptotagmin I1 2 3     Synaptotagmin-11
SVP651 2 3     SytI3
SYT1 2 3     SytI3
P651 2     P651 2
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SYT1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SYT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 12cen-q21

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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: 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
6/10 PDB 3D structures from and Proteopedia for SYT1 (see all 10):
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21579

  • SYT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Uscn Proteins for SYT1

    Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (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 to membrane IEA--


    SYT1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SYT1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR001565 Synaptotagmin
     IPR018029 C2_membr_targeting
     IPR020477 C2_dom
     IPR000008 C2_Ca-dep

    Graphical View of Domain Structure for InterPro Entry P21579

    ProtoNet protein and cluster: P21579

    2 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

         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

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    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
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    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0005516calmodulin binding IEA--
    GO:0005543phospholipid binding TAS1840599


    SYT1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Syt1tm1Sud for SYT1
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Serotonin Neurotransmitter Release Cycle
    Serotonin Neurotransmitter Release Cycle1.00
    Acetylcholine Neurotransmitter Release Cycle0.53
    Dopamine Neurotransmitter Release Cycle1.00
    Glutamate Neurotransmitter Release Cycle0.42
    Norepinephrine Neurotransmitter Release Cycle0.60
    Effects of Botulinum toxin0.40
    2GABA synthesis, release, reuptake and degradation
    GABA synthesis, release, reuptake and degradation1.00
    Neurotransmitter Release Cycle0.53
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67
    4Neuroscience
    Neuroscience1.00
    5Ca, cAMP and Lipid Signaling
    Ca, cAMP and Lipid Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/12        Reactome Pathways for SYT1 (see all 12)
        Acetylcholine Neurotransmitter Release Cycle
    Translocation of BoNT Light chain
    Transmission across Chemical Synapses
    GABA synthesis, release, reuptake and degradation
    Neurotransmitter Release Cycle



    SYT1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SYT1

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

    5/73 Interacting proteins for SYT1 (P215791, 2, 3 ENSP000002612054) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STON2Q8WXE92, 3, ENSP000002675404MINT-6179779 I2D: score=3 STRING: ENSP00000267540
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    CACNB4O00305-21, ENSP000003435634EBI-524909,EBI-714855 I2D: score=1 STRING: ENSP00000343563
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005513detection of calcium ion TAS11438518
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SYT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SYT1

    1 HMDB Compound for SYT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    10/29 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SYT1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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


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    Additional cDNA 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 

    24/143 AceView cDNA sequences (see all 143):

    BM666812 BM723059 BM704004 AK094616 CB153193 AI498885 BQ638361 BQ185324 
    BX471814 BG149946 F02718 BQ717351 F07542 BM693420 BM679311 AW205282 
    AA558912 AV726378 F07727 F02120 BQ188155 AA758264 CB154034 CR627387 

    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

    SYT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACCCTTCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SYT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    EyeRetinaEye
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    Ventral/hypothalamic-like neurons (Generation of midbra...)
    Matrigel embedded cells (Derivation of cardio...)

    See SYT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SYT1

    SOURCE GeneReport for Unigene cluster: Hs.310545
        SABiosciences Expression via Pathway-Focused PCR Arrays including SYT1: 
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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

    This gene was present in the common ancestor of animals.

    Orthologs for SYT1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    92(a)
    1 ↔ 1
    5(37673601-37799092)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ731289.12   -- 73.83(n)    BQ731289.1 
    zebrafish
    (Danio rerio)
    Actinopterygii syt1a6
    syt1b6
    synaptotagmin Ib
    83(a)
    65(a)
    1 ↔ many
    1 ↔ many
    4(20141972-20251089)
    18(6850465-6857041)
    fruit fly
    (Drosophila melanogaster)
    Insecta syt3
    Syt11
    larval locomotory behavior calcium-dependent
    phospholipid more3
    Synaptotagmin 11
    69(a)
    (best of 3)3
    61.29(n)1
    61.96(a)1
      334731  NM_078736.21  NP_523460.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y75B7AL.33
    snt-11
    Protein SNT-11 64(a)
    (best of 5)3
    60.78(n)1
    59.89(a)1
      V(1357344-1361139)3
    1741201  NM_062993.51  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)
    About This Section
    Paralogs for SYT1 gene
    SYT152  SYT42  SYT52  SYT82  SYT92  SYT32  SYT102  SYT62  
    SYT172  SYT112  SYT122  SYT72  SYT22  
    18/26 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, UniProtKB, 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

    10/9035 NCBI SNPs in SYT1 are shown (see all 9035    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    rs1436458021,2
    --79256929(+) GAATAA/CGGATC 2 -- us2k10--------
    rs1512507611,2
    --79257037(+) CCAATA/GTTAAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SYT1 (79257773 - 79507773 bp, first 250kb of SYT1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SYT1
         1 CNV: 86485
         1 Indel: 11629

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SYT1

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

    SYT1 for disorders           About GeneDecksing

    OMIM gene information: 185605    OMIM disorders: --

    20/25 diseases for SYT1 (see all 25):    About MalaCards
    lambert-eaton myasthenic syndrome    attention deficit hyperactivity disorder    mast-cell leukemia    myasthenic syndrome
    intractable epilepsy    synovial sarcoma    botulism    tetanus
    pituitary adenoma    tauopathy    t-cell leukemia    alzheimer's disease
    down syndrome    insulinoma    parkinson's disease    adenoma
    sarcoma    seizures    pharyngitis    leukemia

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

    4 Novoseek 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)

    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)
    About This Section

    PubMed articles for SYT1 gene, integrated from 9 sources (see all 268):
    (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. (1991)
    2. 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. (2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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. (2004)
    5. Altered expression of synaptotagmin I in temporal lob e tissue of patients with refractory epilepsy. (PubMed id 18779938)1, 9 Xiao Z....Sun H.B. (2009)
    6. The c2 domains of human synaptotagmin 1 have distinct mechanical properties. (PubMed id 19186144)1, 9 Fuson K.L....Oberhauser A.F. (2009)
    7. Synaptotagmin I and 1B4 are identical: implications for synaptotagmin distribution in the primate brain. (PubMed id 7624059)1, 9 Chowdhury D....Burton F.H. (1995)
    8. A meta-analysis of genome-wide data from five Europea n isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creat inine level. (PubMed id 20222955)1, 9 Pattaro C....Pramstaller P.P. (2010)
    9. Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP- 25, and synaptotagmin. (PubMed id 11438518)1, 9 Coppola T.... Regazzi R. (2001)
    10. S100A13-C2A binary complex structure-a key component in the acidic fibroblast growth factor for the non-classical pathway. (PubMed id 19284995)1, 9 Mohan S.K.... Yu C. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6857 HGNC: 11509 AceView: SYT1 Ensembl:ENSG00000067715 euGenes: HUgn6857
    ECgene: SYT1 H-InvDB: SYT1

    (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 SYT1 Pharmacogenomics, SNPs, Pathways

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



    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

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     Regulatory tfbs in SYT1 promoter
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