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Aliases for SYT1 Gene

Aliases for SYT1 Gene

  • Synaptotagmin I 2 3 4
  • SVP65 3 4
  • SytI 3 4
  • P65 3 4
  • SYT 3 4
  • Synaptotagmin 1 3
  • 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 I) is a Protein Coding gene. Diseases associated with SYT1 include mast cell disease. Among its related pathways are Disease and Transmission across Chemical Synapses. GO annotations related to this gene include calcium ion binding and phospholipid binding. An important paralog of this gene is SYT5.

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

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

Genomic Location for SYT1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 3 Ca(2+) ions per subunit. The ions are bound to the C2 domains.;
    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

Proteomics data for SYT1 Gene at MOPED

Post-translational modifications for SYT1 Gene

  • Glycosylation at Asn25
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for SYT1 (Synaptotagmin-1)
  • Cell Signaling Technology (CST) Antibodies for SYT1 (SYT1)

No data available for DME Specific Peptides for SYT1 Gene

Domains for SYT1 Gene

Gene Families for SYT1 Gene

HGNC:
  • SYT :Synaptotagmins

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 :
  • P21579
Domain:
  • The first C2 domain mediates Ca(2+)-dependent phospholipid binding
  • The second C2 domain mediates interaction with SV2A and 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

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:0005215 transporter activity --
GO:0005509 calcium ion binding IBA --
GO:0005515 protein binding IPI 11438518
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:

miRNA for SYT1 Gene

miRTarBase miRNAs that target SYT1

miRNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SYT1 Gene

Localization for SYT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYT1 Gene

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
Jensen Localization Image for SYT1 Gene COMPARTMENTS Subcellular localization image for SYT1 gene
Compartment Confidence
plasma membrane 4
cytosol 3
endoplasmic reticulum 2
cytoskeleton 1
extracellular 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 --
GO:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle TAS 11438518
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SYT1: view

Pathways for SYT1 Gene

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

Pathways by source for SYT1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0006810 transport --
GO:0006906 vesicle fusion IBA --
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS 11438518
genes like me logo Genes that share ontologies with SYT1: view

Compounds for SYT1 Gene

(1) HMDB Compounds for SYT1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(29) Novoseek inferred chemical compound relationships for SYT1 Gene

Compound -log(P) Hits PubMed IDs
calcium 65.3 120
inositol 1,3,4,5,6-pentakisphosphate 61.6 2
phosphatidylserine 61.1 8
phospholipid 55 22
phytate 41.2 3
genes like me logo Genes that share compounds with SYT1: view

Transcripts for SYT1 Gene

Unigene Clusters for SYT1 Gene

Synaptotagmin I:
Representative Sequences:

miRNA Products

Primer 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) (10.3), Brain - Anterior cingulate cortex (BA24) (8.7), Brain - Cortex (6.6), Brain - Cerebellar Hemisphere (4.6), and Brain - Hippocampus (4.4).

Protein differential expression in normal tissues for SYT1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SYT1 Gene

SOURCE GeneReport for Unigene cluster for SYT1 Gene Hs.310545

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

Expression partners for SYT1 Gene

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SYT1 Gene

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 35
  • 93.13 (n)
  • 99.76 (a)
SYT1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYT1 35
  • 92.73 (n)
  • 98.58 (a)
SYT1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Syt1 35
  • 90.18 (n)
  • 97.86 (a)
Syt1 16
Syt1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SYT1 35
  • 99.68 (n)
  • 100 (a)
SYT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syt1 35
  • 89.71 (n)
  • 98.1 (a)
oppossum
(Monodelphis domestica)
Mammalia SYT1 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYT1 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYT1 35
  • 86.1 (n)
  • 95.73 (a)
SYT1 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYT1 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia syt1 35
  • 80.84 (n)
  • 90.26 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10446 35
zebrafish
(Danio rerio)
Actinopterygii syt1a 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3020 37
  • 36 (a)
CG5559 37
  • 37 (a)
syt 37
  • 69 (a)
Syt1 35
  • 63.76 (n)
  • 66.01 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007942 35
  • 63.09 (n)
  • 63.43 (a)
worm
(Caenorhabditis elegans)
Secernentea C08G5.4 37
  • 40 (a)
F42G9.7 37
  • 52 (a)
R12A1.2 37
  • 36 (a)
snt-1 37
  • 60 (a)
Y75B7AL.3 37
  • 64 (a)
snt-1 35
  • 61.67 (n)
  • 61.31 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2611 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8468 36
  • 67 (a)
OneToMany
Species with no ortholog for SYT1:
  • 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 MAF
rs3837 -- 78,929,179(-) ggtga(G/T)ctgcc intron-variant
rs883953 -- 79,097,444(-) GACCT(A/C)TGGCT intron-variant
rs925715 -- 79,012,953(-) AAAGG(A/G)GCATG intron-variant
rs925716 -- 79,012,761(-) GCAGC(A/G)ACAGG intron-variant
rs925717 -- 78,985,270(+) CTATA(C/T)GTAGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1463n71 CNV Loss 21882294
nsv899334 CNV Loss 21882294
esv1290661 CNV Insertion 17803354
nsv899335 CNV Loss 21882294
esv1006890 CNV Insertion 20482838
esv269546 CNV Insertion 20981092
nsv832466 CNV Loss 17160897
esv2672330 CNV Deletion 23128226
esv2746111 CNV Deletion 23290073
esv2660779 CNV Deletion 23128226
nsv507657 CNV Insertion 20534489
nsv52925 CNV Loss 16902084
nsv507658 CNV Insertion 20534489
nsv832467 CNV Loss 17160897

Relevant External Links for SYT1 Gene

HapMap Linkage Disequilibrium report
SYT1

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

Disorders for SYT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for SYT1 Gene in MalaCards »

(1) Diseases for SYT1 Gene including...

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}.

(1) University of Copenhagen DISEASES for SYT1 Gene

(4) Novoseek inferred disease relationships for SYT1 Gene

Disease -log(P) Hits PubMed IDs
tumors 1.53 2
epilepsy 0 5
tetanus 0 1
alzheimers disease 0 1

Relevant External Links for SYT1

Genetic Association Database (GAD)
SYT1
Human Genome Epidemiology (HuGE) Navigator
SYT1
genes like me logo Genes that share disorders with SYT1: view

No data available for OMIM and 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 23
  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 23 48
  3. Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP- 25, and synaptotagmin. (PMID: 11438518) Coppola T. … Regazzi R. (J. Biol. Chem. 2001) 3 23
  4. Structure of human synaptotagmin 1 C2AB in the absence of Ca2+ reveals a novel domain association. (PMID: 17956130) Fuson K.L. … Sutton R.B. (Biochemistry 2007) 3 23
  5. Synaptotagmin I and 1B4 are identical: implications for synaptotagmin distribution in the primate brain. (PMID: 7624059) Chowdhury D. … Burton F.H. (Neurosci. Lett. 1995) 3 23

Products for SYT1 Gene

Sources for SYT1 Gene

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