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Aliases for SYT1 Gene

Aliases for SYT1 Gene

  • Synaptotagmin 1 2 3 5
  • Synaptotagmin I 2 3 4
  • SVP65 3 4
  • SytI 3 4
  • P65 3 4
  • SYT 3 4
  • Synaptotagmin-1 3

External Ids for SYT1 Gene

Previous HGNC Symbols for SYT1 Gene

  • SYT
  • SVP65

Previous GeneCards Identifiers for SYT1 Gene

  • GC12P079232
  • GC12P079621
  • GC12P078113
  • GC12P078076
  • GC12P077760
  • GC12P076312

Summaries for SYT1 Gene

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 1) is a Protein Coding gene. Diseases associated with SYT1 include Sarcoma, Synovial and Mast-Cell Leukemia. Among its related pathways are Neurotransmitter Release Cycle and Synaptic vesicle cycle. GO annotations related to this gene include calcium ion binding and transporter activity. An important paralog of this gene is SYT2.

UniProtKB/Swiss-Prot for SYT1 Gene

  • 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. Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Gene Wiki entry for SYT1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYT1 Gene

Genomics for SYT1 Gene

Regulatory Elements for SYT1 Gene

Enhancers for SYT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SYT1 on UCSC Golden Path with GeneCards custom track

Promoters for SYT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SYT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SYT1 Gene

Chromosome:
12
Start:
78,863,993 bp from pter
End:
79,452,008 bp from pter
Size:
588,016 bases
Orientation:
Plus strand

Genomic View for SYT1 Gene

Genes around SYT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYT1 Gene

Proteins for SYT1 Gene

  • Protein details for SYT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21579-SYT1_HUMAN
    Recommended name:
    Synaptotagmin-1
    Protein Accession:
    P21579
    Secondary Accessions:
    • Q6AI31

    Protein attributes for SYT1 Gene

    Size:
    422 amino acids
    Molecular mass:
    47573 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Homotetramer (Probable). Interacts with SCAMP5, STON2, SV2A, SV2B, SV2C and RIMS1. Forms a complex with SV2B, syntaxin 1 and SNAP25 (By similarity).

    Three dimensional structures from OCA and Proteopedia for SYT1 Gene

neXtProt entry for SYT1 Gene

Post-translational modifications for SYT1 Gene

  • Glycosylation at Asn 25
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SYT1 Gene

Domains & Families for SYT1 Gene

Gene Families for SYT1 Gene

Protein Domains for SYT1 Gene

Suggested Antigen Peptide Sequences for SYT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21579

UniProtKB/Swiss-Prot:

SYT1_HUMAN :
  • The first C2 domain mediates Ca(2+)-dependent phospholipid binding.
  • Belongs to the synaptotagmin family.
Domain:
  • The first C2 domain mediates Ca(2+)-dependent phospholipid binding.
  • The second C2 domain mediates interaction with SV2A and probably with STN2.
  • Contains 2 C2 domains.
Family:
  • Belongs to the synaptotagmin family.
genes like me logo Genes that share domains with SYT1: view

Function for SYT1 Gene

Molecular function for SYT1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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. Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Gene Ontology (GO) - Molecular Function for SYT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding ISS --
GO:0001786 phosphatidylserine binding IEA --
GO:0005509 calcium ion binding IBA --
GO:0005515 protein binding IPI 11438518
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with SYT1: view
genes like me logo Genes that share phenotypes with SYT1: view

Animal Models for SYT1 Gene

MGI Knock Outs for SYT1:

Animal Model Products

CRISPR Products

miRNA for SYT1 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SYT1 Gene

Localization for SYT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYT1 Gene

Cytoplasmic vesicle, secretory vesicle membrane; Single-pass membrane protein. 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. {ECO:0000250 UniProtKB:P21707}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYT1 Gene COMPARTMENTS Subcellular localization image for SYT1 gene
Compartment Confidence
plasma membrane 5
cytosol 3
endoplasmic reticulum 2
cytoskeleton 1
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SYT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle TAS 11438518
genes like me logo Genes that share ontologies with SYT1: view

Pathways & Interactions for SYT1 Gene

genes like me logo Genes that share pathways with SYT1: view

Pathways by source for SYT1 Gene

Gene Ontology (GO) - Biological Process for SYT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005513 detection of calcium ion TAS 11438518
GO:0006906 vesicle fusion IBA --
GO:0007268 chemical synaptic transmission TAS 1840599
GO:0007269 neurotransmitter secretion TAS 11438518
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with SYT1: view

No data available for SIGNOR curated interactions for SYT1 Gene

Drugs & Compounds for SYT1 Gene

(14) Drugs for SYT1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(15) Additional Compounds for SYT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SYT1: view

Transcripts for SYT1 Gene

Unigene Clusters for SYT1 Gene

Synaptotagmin I:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SYT1 Gene

No ASD Table

Relevant External Links for SYT1 Gene

GeneLoc Exon Structure for
SYT1
ECgene alternative splicing isoforms for
SYT1

Expression for SYT1 Gene

mRNA expression in normal human tissues for SYT1 Gene

mRNA differential expression in normal tissues according to GTEx for SYT1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.3), Brain - Anterior cingulate cortex (BA24) (x8.7), Brain - Cortex (x6.6), Brain - Cerebellar Hemisphere (x4.6), and Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for SYT1 Gene

This gene is overexpressed in Brain (32.3), Frontal cortex (21.1), and Retina (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SYT1 Gene



Protein tissue co-expression partners for SYT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SYT1 Gene:

SYT1

SOURCE GeneReport for Unigene cluster for SYT1 Gene:

Hs.310545

mRNA Expression by UniProt/SwissProt for SYT1 Gene:

P21579-SYT1_HUMAN
Tissue specificity: Expressed in melanocytes (PubMed:23999003).
genes like me logo Genes that share expression patterns with SYT1: view

Primer Products

Orthologs for SYT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SYT1 34
  • 93.13 (n)
  • 99.76 (a)
SYT1 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYT1 34
  • 92.73 (n)
  • 98.58 (a)
SYT1 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Syt1 34
  • 90.18 (n)
  • 97.86 (a)
Syt1 16
Syt1 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SYT1 34
  • 99.68 (n)
  • 100 (a)
SYT1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syt1 34
  • 89.71 (n)
  • 98.1 (a)
oppossum
(Monodelphis domestica)
Mammalia SYT1 35
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYT1 35
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYT1 34
  • 86.1 (n)
  • 95.73 (a)
SYT1 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYT1 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia syt1 34
  • 80.84 (n)
  • 90.26 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10446 34
zebrafish
(Danio rerio)
Actinopterygii syt1a 35
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3020 36
  • 36 (a)
CG5559 36
  • 37 (a)
syt 36
  • 69 (a)
Syt1 34
  • 63.76 (n)
  • 66.01 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007942 34
  • 63.09 (n)
  • 63.43 (a)
worm
(Caenorhabditis elegans)
Secernentea C08G5.4 36
  • 40 (a)
F42G9.7 36
  • 52 (a)
R12A1.2 36
  • 36 (a)
snt-1 36
  • 60 (a)
Y75B7AL.3 36
  • 64 (a)
snt-1 34
  • 61.67 (n)
  • 61.31 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2611 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8468 35
  • 67 (a)
OneToMany
Species where no ortholog for SYT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SYT1 Gene

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

Paralogs for SYT1 Gene

Paralogs for SYT1 Gene

genes like me logo Genes that share paralogs with SYT1: view

Variants for SYT1 Gene

Sequence variations from dbSNP and Humsavar for SYT1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_072911 -
rs7300916 -- 79,319,343(+) gtagg(C/T)gccat intron-variant
rs7300937 -- 79,319,404(+) ttcca(C/T)gtggc intron-variant
rs7301044 -- 79,319,470(+) cttat(C/T)catca intron-variant
rs7301077 -- 79,201,544(+) TCTTT(C/T)GGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SYT1 Gene

Variant ID Type Subtype PubMed ID
esv1006890 CNV insertion 20482838
esv1290661 CNV insertion 17803354
esv2660779 CNV deletion 23128226
esv2672330 CNV deletion 23128226
esv2746111 CNV deletion 23290073
esv3305268 CNV mobile element insertion 20981092
esv3399689 CNV insertion 20981092
esv3437362 CNV insertion 20981092
esv3549458 CNV deletion 23714750
esv3549460 CNV deletion 23714750
esv3580339 CNV loss 25503493
esv3630065 CNV gain 21293372
esv3630067 CNV loss 21293372
esv3630068 CNV gain 21293372
esv3630071 CNV loss 21293372
esv3630074 CNV loss 21293372
esv3630075 CNV gain 21293372
esv3892228 CNV gain 25118596
nsv1045957 CNV loss 25217958
nsv1054360 CNV loss 25217958
nsv1116705 CNV tandem duplication 24896259
nsv1125555 CNV tandem duplication 24896259
nsv1129535 CNV tandem duplication 24896259
nsv1152109 CNV duplication 26484159
nsv477376 CNV novel sequence insertion 20440878
nsv507657 OTHER sequence alteration 20534489
nsv507658 OTHER sequence alteration 20534489
nsv52925 CNV deletion 16902084
nsv559438 CNV gain 21841781
nsv832466 CNV loss 17160897
nsv832467 CNV loss 17160897
nsv957908 CNV insertion 24416366
nsv976643 CNV duplication 23825009

Variation tolerance for SYT1 Gene

Residual Variation Intolerance Score: 20.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYT1 Gene

Human Gene Mutation Database (HGMD)
SYT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYT1 Gene

Disorders for SYT1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for SYT1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sarcoma, synovial
  • synovial sarcoma
mast-cell leukemia
  • leukemia mast cell
diarrhea 1, secretory chloride, congenital
  • congenital secretory chloride diarrhea 1
infant botulism
  • infant intestinal botulism
mast cell disease
  • maculopapular cutaneous mastocytosis
- elite association - COSMIC cancer census association via MalaCards
Search SYT1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYT1_HUMAN
  • Note=A SYT1 rare mutation has been found in a child with a severe neuro-developmental disorder. The individual harboring this variant shows early onset dyskinetic movement disorder, severe motor delay and profound cognitive impairment, suggesting that SYT1 may play a role in the pathogenesis of this neuro-developmental disorder. {ECO:0000269 PubMed:25705886}.

Relevant External Links for SYT1

Genetic Association Database (GAD)
SYT1
Human Genome Epidemiology (HuGE) Navigator
SYT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYT1
genes like me logo Genes that share disorders with SYT1: view

No data available for Genatlas for SYT1 Gene

Publications for SYT1 Gene

  1. Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans. (PMID: 1840599) Perin M.S. … Suedhof T.C. (J. Biol. Chem. 1991) 2 3 4 22 65
  2. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. (PMID: 20222955) Pattaro C. … Pramstaller P.P. (BMC Med. Genet. 2010) 3 22 46 65
  3. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. (PMID: 25705886) Baker K. … Raymond F.L. (J. Clin. Invest. 2015) 3 4 65
  4. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo J.C. … Yoon T.J. (J. Dermatol. Sci. 2013) 3 4 65
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65

Products for SYT1 Gene

Sources for SYT1 Gene

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