Gene: SYT1

Alternate names for this Gene: BAGOS|P65|SVP65|SYT

Gene Summary: 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].

Gene is located in Chromosome: 12

Location in Chromosome : 12q21.2

Description of this Gene: synaptotagmin 1

Type of Gene: protein-coding

rs1135402761 in SYT1 gene and BAKER-GORDON SYNDROME PMID 30107533 2018 SYT1-associated neurodevelopmental disorder: a case series.

PMID 25705886 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

rs1555226395 in SYT1 gene and Dysmorphic features PMID 26030874 2015 Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution.

PMID 11668675 2001 Drosophila synaptotagmin I null mutants survive to early adulthood.

PMID 12110842 2002 The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo.

PMID 23283333 2013 Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release.

PMID 24183019 2013 Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.

PMID 25698934 2015 Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation.

PMID 15492212 2004 Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I.

PMID 18275379 2008 How does synaptotagmin trigger neurotransmitter release?

PMID 27476655 2016 ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

PMID 21307261 2011 Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 19926819 2010 Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1.

PMID 7954835 1994 Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse.

PMID 15456828 2004 Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release.

PMID 7477324 1995 Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans.

PMID 25775572 2015 Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release.

PMID 25705886 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

PMID 14715137 2004 N-glycosylation is essential for vesicular targeting of synaptotagmin 1.

rs190948096 in SYT1 gene and Glomerular Filtration Rate PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs1732664 in SYT1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs17005500 in SYT1 gene and Lupus Erythematosus, Systemic PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

rs1555226395 in SYT1 gene and Muscle hypotonia PMID 27476655 2016 ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

PMID 18275379 2008 How does synaptotagmin trigger neurotransmitter release?

PMID 12110842 2002 The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo.

PMID 14715137 2004 N-glycosylation is essential for vesicular targeting of synaptotagmin 1.

PMID 7477324 1995 Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans.

PMID 21307261 2011 Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo.

PMID 15456828 2004 Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release.

PMID 25775572 2015 Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release.

PMID 7954835 1994 Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse.

PMID 23283333 2013 Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release.

PMID 26030874 2015 Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 15492212 2004 Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I.

PMID 11668675 2001 Drosophila synaptotagmin I null mutants survive to early adulthood.

PMID 25698934 2015 Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation.

PMID 19926819 2010 Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1.

PMID 25705886 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

PMID 24183019 2013 Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.

rs6539344 in SYT1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs6539284 in SYT1 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.