Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SYT1 (synaptotagmin 1)

Identity

Alias_namesSYT
SVP65
synaptotagmin I
Alias_symbol (synonym)P65
Other alias
HGNC (Hugo) SYT1
LocusID (NCBI) 6857
Atlas_Id 47357
Location 12q21.2  [Link to chromosome band 12q21]
Location_base_pair Starts at 78864669 and ends at 79452008 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CYTH1 (17q25.3) / SYT1 (12q21.2)LPCAT1 (5p15.33) / SYT1 (12q21.2)NELL1 (11p15.1) / SYT1 (12q21.2)
SSX1 (Xp11.23) / SYT1 (12q21.2)SSX2B (Xp11.22) / SYT1 (12q21.2)SYT1 (12q21.2) / ACSS3 (12q21.31)
SYT1 (12q21.2) / AQP4 (18q11.2)SYT1 (12q21.2) / ATXN1 (6p22.3)SYT1 (12q21.2) / BTNL2 (6p21.32)
SYT1 (12q21.2) / CDH10 (5p14.2)SYT1 (12q21.2) / FGD6 (12q22)SYT1 (12q21.2) / METTL25 (12q21.31)
SYT1 (12q21.2) / NUP133 (1q42.13)SYT1 (12q21.2) / RIC8B (12q23.3)SYT1 (12q21.2) / SSX1 (Xp11.23)
SYT1 (12q21.2) / SSX2 (Xp11.22)SYT1 (12q21.2) / SSX2B (Xp11.22)SYT1 (12q21.2) / SSX4 (Xp11.23)
USP15 (12q14.1) / SYT1 (12q21.2)YAF2 (12q12) / SYT1 (12q21.2)SYT1 12q21.2 / ACSS3 12q21.31
SYT1 12q21.2 / RIC8B 12q23.3USP15 12q14.1 / SYT1 12q21.2YAF2 12q12 / SYT1 12q21.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  t(11;12)(p15;q21) NELL1/SYT1
t(12;12)(q12;q21) YAF2/SYT1
t(12;12)(q14;q21) USP15/SYT1
SYT1/ACSS3 (12q21)
SYT1/METTL25 (12q21)
t(12;12)(q21;q22) SYT1/FGD6
t(12;12)(q21;q23) SYT1/RIC8B


External links

Nomenclature
HGNC (Hugo)SYT1   11509
Cards
Entrez_Gene (NCBI)SYT1  6857  synaptotagmin 1
AliasesP65; SVP65; SYT
GeneCards (Weizmann)SYT1
Ensembl hg19 (Hinxton)ENSG00000067715 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000067715 [Gene_View]  ENSG00000067715 [Sequence]  chr12:78864669-79452008 [Contig_View]  SYT1 [Vega]
ICGC DataPortalENSG00000067715
TCGA cBioPortalSYT1
AceView (NCBI)SYT1
Genatlas (Paris)SYT1
WikiGenes6857
SOURCE (Princeton)SYT1
Genetics Home Reference (NIH)SYT1
Genomic and cartography
GoldenPath hg38 (UCSC)SYT1  -     chr12:78864669-79452008 +  12q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SYT1  -     12q21.2   [Description]    (hg19-Feb_2009)
EnsemblSYT1 - 12q21.2 [CytoView hg19]  SYT1 - 12q21.2 [CytoView hg38]
Mapping of homologs : NCBISYT1 [Mapview hg19]  SYT1 [Mapview hg38]
OMIM185605   
Gene and transcription
Genbank (Entrez)AK094616 AK126908 AK308743 BC041373 BC051915
RefSeq transcript (Entrez)NM_001135805 NM_001135806 NM_001291901 NM_005639
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SYT1
Cluster EST : UnigeneHs.310545 [ NCBI ]
CGAP (NCI)Hs.310545
Alternative Splicing GalleryENSG00000067715
Gene ExpressionSYT1 [ NCBI-GEO ]   SYT1 [ EBI - ARRAY_EXPRESS ]   SYT1 [ SEEK ]   SYT1 [ MEM ]
Gene Expression Viewer (FireBrowse)SYT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6857
GTEX Portal (Tissue expression)SYT1
Human Protein AtlasENSG00000067715-SYT1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21579   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21579  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21579
Splice isoforms : SwissVarP21579
PhosPhoSitePlusP21579
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    C2_domain_sf    Synaptotagmin    Synaptotagmin1/2   
Domain families : Pfam (Sanger)C2 (PF00168)   
Domain families : Pfam (NCBI)pfam00168   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)SYT1
DMDM Disease mutations6857
Blocks (Seattle)SYT1
PDB (SRS)2K45    2K4A    2K8M    2KI6    2LHA    2N1T    2R83    3F00    3F01    3F04    3F05    4ISQ    4V11   
PDB (PDBSum)2K45    2K4A    2K8M    2KI6    2LHA    2N1T    2R83    3F00    3F01    3F04    3F05    4ISQ    4V11   
PDB (IMB)2K45    2K4A    2K8M    2KI6    2LHA    2N1T    2R83    3F00    3F01    3F04    3F05    4ISQ    4V11   
PDB (RSDB)2K45    2K4A    2K8M    2KI6    2LHA    2N1T    2R83    3F00    3F01    3F04    3F05    4ISQ    4V11   
Structural Biology KnowledgeBase2K45    2K4A    2K8M    2KI6    2LHA    2N1T    2R83    3F00    3F01    3F04    3F05    4ISQ    4V11   
SCOP (Structural Classification of Proteins)2K45    2K4A    2K8M    2KI6    2LHA    2N1T    2R83    3F00    3F01    3F04    3F05    4ISQ    4V11   
CATH (Classification of proteins structures)2K45    2K4A    2K8M    2KI6    2LHA    2N1T    2R83    3F00    3F01    3F04    3F05    4ISQ    4V11   
SuperfamilyP21579
Human Protein Atlas [tissue]ENSG00000067715-SYT1 [tissue]
Peptide AtlasP21579
HPRD01710
IPIIPI00009439   IPI01022647   IPI01021980   IPI01022826   IPI01022457   IPI01021507   IPI01021063   IPI00791335   
Protein Interaction databases
DIP (DOE-UCLA)P21579
IntAct (EBI)P21579
FunCoupENSG00000067715
BioGRIDSYT1
STRING (EMBL)SYT1
ZODIACSYT1
Ontologies - Pathways
QuickGOP21579
Ontology : AmiGOSNARE binding  SNARE binding  phosphatidylserine binding  calcium ion binding  detection of calcium ion  protein binding  calmodulin binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  1-phosphatidylinositol binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  Golgi apparatus  plasma membrane  plasma membrane  chemical synaptic transmission  neurotransmitter secretion  brain development  synaptic vesicle  protein C-terminus binding  glutamate secretion  regulation of dopamine secretion  synaptic vesicle exocytosis  vesicle-mediated transport  syntaxin-1 binding  syntaxin-1 binding  calcium ion regulated exocytosis  regulation of exocytosis  syntaxin binding  cell junction  clathrin binding  integral component of synaptic vesicle membrane  syntaxin-3 binding  axon  clathrin-coated vesicle membrane  synaptic vesicle membrane  synaptic vesicle membrane  dense core granule  SNARE complex  chromaffin granule membrane  presynaptic membrane  identical protein binding  neuron projection  neuron projection terminus  protein heterodimerization activity  vesicle docking  calcium-dependent protein binding  synaptic vesicle endocytosis  calcium ion-regulated exocytosis of neurotransmitter  low-density lipoprotein particle receptor binding  positive regulation of synaptic transmission  protein homooligomerization  protein heterooligomerization  regulation of synaptic transmission, glutamatergic  excitatory synapse  clathrin-sculpted acetylcholine transport vesicle membrane  clathrin-sculpted glutamate transport vesicle membrane  membrane organization  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  clathrin-sculpted monoamine transport vesicle membrane  exocytic vesicle  cellular response to calcium ion  cellular response to calcium ion  hippocampal mossy fiber to CA3 synapse  fast, calcium ion-dependent exocytosis of neurotransmitter  glutamatergic synapse  calcium-dependent activation of synaptic vesicle fusion  regulation of regulated secretory pathway  positive regulation of dendrite extension  
Ontology : EGO-EBISNARE binding  SNARE binding  phosphatidylserine binding  calcium ion binding  detection of calcium ion  protein binding  calmodulin binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  calcium-dependent phospholipid binding  1-phosphatidylinositol binding  phosphatidylinositol-4,5-bisphosphate binding  cytoplasm  Golgi apparatus  plasma membrane  plasma membrane  chemical synaptic transmission  neurotransmitter secretion  brain development  synaptic vesicle  protein C-terminus binding  glutamate secretion  regulation of dopamine secretion  synaptic vesicle exocytosis  vesicle-mediated transport  syntaxin-1 binding  syntaxin-1 binding  calcium ion regulated exocytosis  regulation of exocytosis  syntaxin binding  cell junction  clathrin binding  integral component of synaptic vesicle membrane  syntaxin-3 binding  axon  clathrin-coated vesicle membrane  synaptic vesicle membrane  synaptic vesicle membrane  dense core granule  SNARE complex  chromaffin granule membrane  presynaptic membrane  identical protein binding  neuron projection  neuron projection terminus  protein heterodimerization activity  vesicle docking  calcium-dependent protein binding  synaptic vesicle endocytosis  calcium ion-regulated exocytosis of neurotransmitter  low-density lipoprotein particle receptor binding  positive regulation of synaptic transmission  protein homooligomerization  protein heterooligomerization  regulation of synaptic transmission, glutamatergic  excitatory synapse  clathrin-sculpted acetylcholine transport vesicle membrane  clathrin-sculpted glutamate transport vesicle membrane  membrane organization  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  clathrin-sculpted monoamine transport vesicle membrane  exocytic vesicle  cellular response to calcium ion  cellular response to calcium ion  hippocampal mossy fiber to CA3 synapse  fast, calcium ion-dependent exocytosis of neurotransmitter  glutamatergic synapse  calcium-dependent activation of synaptic vesicle fusion  regulation of regulated secretory pathway  positive regulation of dendrite extension  
Pathways : KEGGSynaptic vesicle cycle   
NDEx NetworkSYT1
Atlas of Cancer Signalling NetworkSYT1
Wikipedia pathwaysSYT1
Orthology - Evolution
OrthoDB6857
GeneTree (enSembl)ENSG00000067715
Phylogenetic Trees/Animal Genes : TreeFamSYT1
HOVERGENP21579
HOGENOMP21579
Homologs : HomoloGeneSYT1
Homology/Alignments : Family Browser (UCSC)SYT1
Gene fusions - Rearrangements
Fusion : MitelmanNELL1/SYT1 [11p15.1/12q21.2]  [t(11;12)(p15;q21)]  
Fusion : MitelmanSYT1/ACSS3 [12q21.2/12q21.31]  [t(12;12)(q21;q21)]  
Fusion : MitelmanSYT1/C12orf26 [12q21.2/t(12;12)(q21;q21)]  
Fusion : MitelmanSYT1/FGD6 [12q21.2/12q22]  [t(12;12)(q21;q22)]  
Fusion : MitelmanSYT1/RIC8B [12q21.2/12q23.3]  [t(12;12)(q21;q23)]  
Fusion : MitelmanUSP15/SYT1 [12q14.1/12q21.2]  [t(12;12)(q14;q21)]  
Fusion : MitelmanYAF2/SYT1 [12q12/12q21.2]  [t(12;12)(q12;q21)]  
Fusion PortalSYT1 12q21.2 ACSS3 12q21.31 BRCA
Fusion PortalSYT1 12q21.2 RIC8B 12q23.3 BRCA
Fusion PortalUSP15 12q14.1 SYT1 12q21.2 LUAD
Fusion PortalYAF2 12q12 SYT1 12q21.2 BRCA
Fusion : QuiverSYT1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSYT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SYT1
dbVarSYT1
ClinVarSYT1
1000_GenomesSYT1 
Exome Variant ServerSYT1
ExAC (Exome Aggregation Consortium)ENSG00000067715
GNOMAD BrowserENSG00000067715
Varsome BrowserSYT1
Genetic variants : HAPMAP6857
Genomic Variants (DGV)SYT1 [DGVbeta]
DECIPHERSYT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSYT1 
Mutations
ICGC Data PortalSYT1 
TCGA Data PortalSYT1 
Broad Tumor PortalSYT1
OASIS PortalSYT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSYT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSYT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SYT1
DgiDB (Drug Gene Interaction Database)SYT1
DoCM (Curated mutations)SYT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SYT1 (select a term)
intoGenSYT1
Cancer3DSYT1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM185605   
Orphanet
DisGeNETSYT1
MedgenSYT1
Genetic Testing Registry SYT1
NextProtP21579 [Medical]
TSGene6857
GENETestsSYT1
Target ValidationSYT1
Huge Navigator SYT1 [HugePedia]
snp3D : Map Gene to Disease6857
BioCentury BCIQSYT1
ClinGenSYT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6857
Chemical/Pharm GKB GenePA36290
Clinical trialSYT1
Miscellaneous
canSAR (ICR)SYT1 (select the gene name)
Probes
Litterature
PubMed97 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSYT1
EVEXSYT1
GoPubMedSYT1
iHOPSYT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:43:18 CET 2018

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