Property Summary

NCBI Gene PubMed Count 72
PubMed Score 445.77
PubTator Score 402.91

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (24)

Disease log2 FC p
Multiple myeloma 1.523 4.2e-03
malignant mesothelioma -5.000 5.6e-08
astrocytoma -5.500 3.0e-03
ependymoma -6.400 2.1e-03
oligodendroglioma -4.100 3.2e-17
glioblastoma -6.600 2.7e-05
group 4 medulloblastoma -5.400 7.8e-08
atypical teratoid / rhabdoid tumor -4.900 4.6e-05
medulloblastoma, large-cell -2.800 4.6e-06
primitive neuroectodermal tumor -3.300 6.9e-03
non-small cell lung cancer 1.419 2.8e-11
intraductal papillary-mucinous adenoma (... -1.400 3.1e-03
lung cancer 3.600 7.6e-06
Parkinson's disease -2.700 1.3e-02
interstitial cystitis -2.500 1.0e-04
adult high grade glioma -4.700 1.5e-06
pilocytic astrocytoma -5.400 4.8e-11
aldosterone-producing adenoma -1.446 1.8e-02
subependymal giant cell astrocytoma -3.488 3.3e-02
lung carcinoma 4.400 1.3e-22
Pick disease -2.600 3.2e-02
Breast cancer 1.200 2.8e-02
acute myeloid leukemia -1.100 2.0e-02
ovarian cancer -2.100 1.7e-09

Gene RIF (29)

PMID Text
27126659 One-Step reverse transcriptase real time PCR for the detection SYT-SSX transcript is feasible as an aid in confirming the diagnosis of synovial sarcoma.
27036734 These findings identify Syt1 as a novel Ca(2+)-sensitive PS1 modulator that could regulate synaptic ABETA, opening avenues for novel and selective synapse targeting therapeutic strategies.
26202220 membrane tethering by E-Syt1 (ER to PM) and by synaptotagmin (secretory vesicles to PM) undergo a similar regulation by plasma membrane lipids and cytosolic Ca(2+).
25705886 A dominant negative de novo SYT1 missense variant(I368T)altered the kinetics of synaptic vesicle endocytosis and caused an early onset dyskinetic movement disorder, severe motor delay, and profound cognitive impairment.
25233429 Data suggest that calcium-dependent phosphatidylinositol 4,5-diphosphate- (PI(4,5)P2-) binding proteins (such as SYT1, PRKCA [protein kinase C alpha], and ANXA2 [annexin A2]) interactions with membrane microdomains are tightly regulated. [REVIEW]
24505276 Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.
24302762 Structural insights into the Ca2+ and PI(4,5)P2 binding modes of the C2 domains of rabphilin 3A and synaptotagmin 1.
23932591 Hydrophobic interactions play a key role in Syt1 binding botulinum neurotoxin DC.
23607712 synaptotagmin-1 is involved in a rapid vesicular Ca(2) sequestration through a Ca(2)/H antiport
23341457 PRIP inhibits regulated exocytosis through the interaction of its C2 domain with syntaxin 1 and SNAP-25, potentially competing with accessory proteins such as synaptotagmin I and by directly inhibiting trans-SNARE complex formation
23071627 Characterization of negative coupling interaction between the C2 domains of Syt I.
22966849 The membrane dissociation of SYT7 C2A domain but not SYT1 C2A domain is slowed by Na(2)SO(4) and trehalose, solutes that enhance the hydrophobic effect.
22853901 The mechanistic basis for C2A domain of synaptotagmin I's response to Ca(2+) and cellular function stems from marginal stability and ligand-induced redistributions of protein conformers.
22705946 Together with synaptotagmin 1, complexin synchronizes and stimulates rapid fusion of accumulated docked vesicles in response to physiological Ca(2+) concentrations.
22475172 The calcium binding site to the C2A domain of SYT1 has been identified; this SYT1 domain activates exocytosis of secretory vesicles during neurotransmitter release.
22360420 A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20222955 association between serum creatinine level and polymorphisms in the collagen type XXII alpha 1 (COL22A1) gene, on chromosome 8, and in the synaptotagmin-1 (SYT1) gene, on chromosome 12
20222955 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
19926819 intestinal epithelial Syt 1 plays an important role in cAMP-stimulated endocytosis of apical NHE3 through cAMP-dependent phosphorylation of S605 that is required for NHE3 and Syt 1 association
19835837 NMR characterization of copper and lipid interactions of the C2B domain of synaptotagmin I-relevance to the non-classical secretion of the human acidic fibroblast growth factor (hFGF-1).
19557857 Observational study of gene-disease association. (HuGE Navigator)
19186144 mechanical stability of the C2A and C2B domains of human Syt1
18937294 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18779938 These findings provide new information in the epileptogenesis of refractory epilepsy, and suggest that Synaptotagmin I might be involved in human refractory epilepsy.
17956130 The shared interface between C2A and C2B is stabilized by a network of interactions between residues on the C-terminal alpha-helix of the C2B domain and residues on loops 1-3 of the Ca2+-binding region of C2A.
17307723 Syt I mediates cAMP- and Ca(2+)-induced endocytosis of NHE3 through cargo recognition of NHE3 and subsequent recruitment of AP2-clathrin assembly required for membrane endocytosis.
14709554 both synaptotagmins I and II can interact with the syntaxin/synaptosomal-associated protein of 25 kDa (SNAP-25) dimer
12089155 synaptotagmin-I expressing neuroblastoma cells require gangliosides for Botulinum neurotoxin A activity

AA Sequence

MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWALIAIAIVAVL      1 - 70
LVLTCCFCICKKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALKDDDAETGLTDGEEKEEPKEE     71 - 140
EKLGKLQYSLDYDFQNNQLLVGIIQAAELPALDMGGTSDPYVKVFLLPDKKKKFETKVHRKTLNPVFNEQ    141 - 210
FTFKVPYSELGGKTLVMAVYDFDRFSKHDIIGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFS    211 - 280
LRYVPTAGKLTVVILEAKNLKKMDVGGLSDPYVKIHLMQNGKRLKKKKTTIKKNTLNPYYNESFSFEVPF    281 - 350
EQIQKVQVVVTVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIAQWHTLQVEEEVDAMLAV    351 - 420
KK                                                                        421 - 422
//

Text Mined References (74)

PMID Year Title
27126659 2016 Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR.
27036734 2016 Identification of the novel activity-driven interaction between synaptotagmin 1 and presenilin 1 links calcium, synapse, and amyloid beta.
26202220 2015 Triggered Ca2+ influx is required for extended synaptotagmin 1-induced ER-plasma membrane tethering.
25705886 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
25233429 2014 Role of calcium in membrane interactions by PI(4,5)P?-binding proteins.
24505276 2014 Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.
24302762 2013 Structural insights into the Ca2+ and PI(4,5)P2 binding modes of the C2 domains of rabphilin 3A and synaptotagmin 1.
23999003 2013 SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation.
23932591 2013 Crystal structures of botulinum neurotoxin DC in complex with its protein receptors synaptotagmin I and II.
23607712 2013 Synaptotagmin 1 is required for vesicular Ca²?/H?-antiport activity.
23341457 2013 PRIP (phospholipase C-related but catalytically inactive protein) inhibits exocytosis by direct interactions with syntaxin 1 and SNAP-25 through its C2 domain.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23071627 2012 Negative coupling as a mechanism for signal propagation between C2 domains of synaptotagmin I.
22966849 2012 Hydrophobic contributions to the membrane docking of synaptotagmin 7 C2A domain: mechanistic contrast between isoforms 1 and 7.
22853901 2012 Mechanism for calcium ion sensing by the C2A domain of synaptotagmin I.
22705946 2012 Complexin arrests a pool of docked vesicles for fast Ca2+-dependent release.
22475172 2012 Molecular level interaction of inositol hexaphosphate with the C2B domain of human synaptotagmin I.
22360420 2012 Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20222955 2010 A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
20098747 2010 Expanding the substantial interactome of NEMO using protein microarrays.
19926819 2010 Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1.
19835837 2010 NMR characterization of copper and lipid interactions of the C2B domain of synaptotagmin I-relevance to the non-classical secretion of the human acidic fibroblast growth factor (hFGF-1).
19557857 2009 De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.
19284995 2009 S100A13-C2A binary complex structure-a key component in the acidic fibroblast growth factor for the non-classical pathway.
19234194 2009 Human SCAMP5, a novel secretory carrier membrane protein, facilitates calcium-triggered cytokine secretion by interaction with SNARE machinery.
19234085 2009 Zea mays annexins modulate cytosolic free Ca2+ and generate a Ca2+-permeable conductance.
19186144 2009 The c2 domains of human synaptotagmin 1 have distinct mechanical properties.
18937294 2008 Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.
18779938 2009 Altered expression of synaptotagmin I in temporal lobe tissue of patients with refractory epilepsy.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17956130 2007 Structure of human synaptotagmin 1 C2AB in the absence of Ca2+ reveals a novel domain association.
17307723 2007 Synaptotagmin I binds intestinal epithelial NHE3 and mediates cAMP- and Ca2+-induced endocytosis by recruitment of AP2 and clathrin.
16525042 2006 Alternative splicing of the voltage-gated Ca2+ channel beta4 subunit creates a uniquely folded N-terminal protein binding domain with cell-specific expression in the cerebellar cortex.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15603740 2004 Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15466855 2004 SV2B regulates synaptotagmin 1 by direct interaction.
15082773 2004 Normal development and fertility of knockout mice lacking the tumor suppressor gene LRP1b suggest functional compensation by LRP1.
14709554 2004 Synaptotagmin interaction with the syntaxin/SNAP-25 dimer is mediated by an evolutionarily conserved motif and is sensitive to inositol hexakisphosphate.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12750892 2004 The SLC32 transporter, a key protein for the synaptic release of inhibitory amino acids.
12526776 2003 Sr2+ binding to the Ca2+ binding site of the synaptotagmin 1 C2B domain triggers fast exocytosis without stimulating SNARE interactions.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12135982 2002 The intracellular translocation of the components of the fibroblast growth factor 1 release complex precedes their assembly prior to export.
12089155 2002 Botulinum neurotoxin A activity is dependent upon the presence of specific gangliosides in neuroblastoma cells expressing synaptotagmin I.
11454741 2001 Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating.
11438523 2001 Peroxisome proliferator-activated receptor-gamma-independent inhibition of macrophage activation by the non-thiazolidinedione agonist L-796,449. Comparison with the effects of 15-deoxy-delta(12,14)-prostaglandin J(2).
11438520 2001 Mutations of either or both Cys876 and Cys888 residues of sarcoplasmic reticulum Ca2+-ATPase result in a complete loss of Ca2+ transport activity without a loss of Ca2+-dependent ATPase activity. Role of the CYS876-CYS888 disulfide bond.
11438518 2001 Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin.
11432880 2001 Copper induces the assembly of a multiprotein aggregate implicated in the release of fibroblast growth factor 1 in response to stress.
11381094 2001 Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery.
11243866 2001 Synaptotagmin-like protein 1-3: a novel family of C-terminal-type tandem C2 proteins.
11242035 2001 Synaptotagmin I functions as a calcium regulator of release probability.
11181737 2001 Synaptotagmin I expression in mast cells of normal human tissues, systemic mast cell disease, and a human mast cell leukemia cell line.
10734137 2000 SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear ribonucleoprotein R, interacts with ubiquitous synaptotagmin isoforms.
10692432 2000 The C terminus of SNAP25 is essential for Ca(2+)-dependent binding of synaptotagmin to SNARE complexes.
10397765 1999 Functional and biochemical analysis of the C2 domains of synaptotagmin IV.
9712836 1998 S100A13 is involved in the regulation of fibroblast growth factor-1 and p40 synaptotagmin-1 release in vitro.
9303303 1997 Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel.
9010211 1997 Synaptotagmin-syntaxin interaction: the C2 domain as a Ca2+-dependent electrostatic switch.
8999968 1997 Direct interaction of the rat unc-13 homologue Munc13-1 with the N terminus of syntaxin.
8901523 1996 Mirror image motifs mediate the interaction of the COOH terminus of multiple synaptotagmins with the neurexins and calmodulin.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8769138 1996 Fatty acylation of synaptotagmin in PC12 cells and synaptosomes.
8087843 1994 Synaptotagmin I is a high affinity receptor for clathrin AP-2: implications for membrane recycling.
8071310 1994 Functional identification of a vesicular acetylcholine transporter and its expression from a "cholinergic" gene locus.
7798952 1995 A Ewing's sarcoma cell line showing some, but not all, of the traits of a cholinergic neuron.
7624059 1995 Synaptotagmin I and 1B4 are identical: implications for synaptotagmin distribution in the primate brain.
7553862 1995 Complexins: cytosolic proteins that regulate SNAP receptor function.
2446925 1987 The N-terminal half of the heavy chain of botulinum type A neurotoxin forms channels in planar phospholipid bilayers.
1840599 1991 Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans.
1326322 1992 p65 fragments, homologous to the C2 region of protein kinase C, bind to the intracellular receptors for protein kinase C.