Biology:SYT1
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Synaptotagmin-1 is a protein that in humans is encoded by the SYT1 gene.[1]
Function
Synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as sensors for calcium ions (Ca2+) in the process of vesicular trafficking and exocytosis. Calcium ion binding to synaptotagmin I participates in triggering neurotransmitter release at the synapse.[2] [Supplied by OMIM][3]
SYT1 is the master switch responsible for allowing the human brain to release neurotransmitters. SYT1 senses calcium ion concentrations as low as 10 ppm and subsequently signals the SNARE complex to open fusion pores.[4]
Interactions
SYT1 has been shown to interact with SNAP-25,[5][6] STX1A[7][8] and S100A13.[9][10]
Clinical Significance
Mutations in the SYT1 gene cause a rare neurodevelopmental disorder known as SYT1-associated neurodevelopmental disorder (or Baker-Gordon Syndrome).[11][12]
References
- ↑ "Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans". The Journal of Biological Chemistry 266 (1): 615–22. Jan 1991. doi:10.1016/S0021-9258(18)52479-0. PMID 1840599.
- ↑ "Synaptotagmin I functions as a calcium regulator of release probability". Nature 410 (6824): 41–9. March 2001. doi:10.1038/35065004. PMID 11242035.
- ↑ "Entrez Gene: SYT1 synaptotagmin I". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6857.
- ↑ "Dynamic Ca2+-dependent stimulation of vesicle fusion by membrane-anchored synaptotagmin 1". Science 328 (5979): 760–3. May 2010. doi:10.1126/science.1187722. PMID 20448186.
- "Brain's master switch is verified". ScienceDaily (Press release). May 9, 2010.
- ↑ "The C terminus of SNAP25 is essential for Ca(2+)-dependent binding of synaptotagmin to SNARE complexes". The Journal of Biological Chemistry 275 (9): 6328–36. Mar 2000. doi:10.1074/jbc.275.9.6328. PMID 10692432.
- ↑ "Ca2+-dependent synaptotagmin binding to SNAP-25 is essential for Ca2+-triggered exocytosis". Neuron 34 (4): 599–611. May 2002. doi:10.1016/S0896-6273(02)00671-2. PMID 12062043.
- ↑ "Synaptotagmin-syntaxin interaction: the C2 domain as a Ca2+-dependent electrostatic switch". Neuron 18 (1): 133–42. Jan 1997. doi:10.1016/S0896-6273(01)80052-0. PMID 9010211.
- ↑ "Functional and biochemical analysis of the C2 domains of synaptotagmin IV". Molecular Biology of the Cell 10 (7): 2285–95. Jul 1999. doi:10.1091/mbc.10.7.2285. PMID 10397765.
- ↑ "S100A13 is involved in the regulation of fibroblast growth factor-1 and p40 synaptotagmin-1 release in vitro". The Journal of Biological Chemistry 273 (35): 22224–31. Aug 1998. doi:10.1074/jbc.273.35.22224. PMID 9712836.
- ↑ "Copper induces the assembly of a multiprotein aggregate implicated in the release of fibroblast growth factor 1 in response to stress". The Journal of Biological Chemistry 276 (27): 25549–57. Jul 2001. doi:10.1074/jbc.M102925200. PMID 11432880.
- ↑ "SYT1-associated neurodevelopmental disorder: a case series". Brain 141 (9): 2576–2591. 2018. doi:10.1093/brain/awy209. PMID 30107533.
- ↑ "OMIM entry: Baker-Gordon Syndrome". https://www.omim.org/entry/618218?search=618218.
Further reading
- "p65 fragments, homologous to the C2 region of protein kinase C, bind to the intracellular receptors for protein kinase C". Biochemistry 31 (35): 8120–4. Sep 1992. doi:10.1021/bi00150a003. PMID 1326322.
- "Complexins: cytosolic proteins that regulate SNAP receptor function". Cell 83 (1): 111–9. Oct 1995. doi:10.1016/0092-8674(95)90239-2. PMID 7553862.
- "A Ewing's sarcoma cell line showing some, but not all, of the traits of a cholinergic neuron". Journal of Neurochemistry 64 (1): 69–76. Jan 1995. doi:10.1046/j.1471-4159.1995.64010069.x. PMID 7798952.
- "Synaptotagmin I is a high affinity receptor for clathrin AP-2: implications for membrane recycling". Cell 78 (5): 751–60. Sep 1994. doi:10.1016/S0092-8674(94)90442-1. PMID 8087843.
- "Fatty acylation of synaptotagmin in PC12 cells and synaptosomes". Biochemical and Biophysical Research Communications 225 (1): 326–32. Aug 1996. doi:10.1006/bbrc.1996.1174. PMID 8769138.
- "Mirror image motifs mediate the interaction of the COOH terminus of multiple synaptotagmins with the neurexins and calmodulin". Biochemistry 35 (43): 13808–16. Oct 1996. doi:10.1021/bi960853x. PMID 8901523.
- "Direct interaction of the rat unc-13 homologue Munc13-1 with the N terminus of syntaxin". The Journal of Biological Chemistry 272 (4): 2520–6. Jan 1997. doi:10.1074/jbc.272.4.2520. PMID 8999968.
- "Synaptotagmin-syntaxin interaction: the C2 domain as a Ca2+-dependent electrostatic switch". Neuron 18 (1): 133–42. Jan 1997. doi:10.1016/S0896-6273(01)80052-0. PMID 9010211.
- "Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel". The EMBO Journal 16 (15): 4591–6. Aug 1997. doi:10.1093/emboj/16.15.4591. PMID 9303303.
- "S100A13 is involved in the regulation of fibroblast growth factor-1 and p40 synaptotagmin-1 release in vitro". The Journal of Biological Chemistry 273 (35): 22224–31. Aug 1998. doi:10.1074/jbc.273.35.22224. PMID 9712836.
- "Functional and biochemical analysis of the C2 domains of synaptotagmin IV". Molecular Biology of the Cell 10 (7): 2285–95. Jul 1999. doi:10.1091/mbc.10.7.2285. PMID 10397765.
- "The C terminus of SNAP25 is essential for Ca(2+)-dependent binding of synaptotagmin to SNARE complexes". The Journal of Biological Chemistry 275 (9): 6328–36. Mar 2000. doi:10.1074/jbc.275.9.6328. PMID 10692432.
- "SYNCRIP, a cytoplasmic counterpart of heterogeneous nuclear ribonucleoprotein R, interacts with ubiquitous synaptotagmin isoforms". The Journal of Biological Chemistry 275 (13): 9823–31. Mar 2000. doi:10.1074/jbc.275.13.9823. PMID 10734137.
- "Synaptotagmin I expression in mast cells of normal human tissues, systemic mast cell disease, and a human mast cell leukemia cell line". The Journal of Histochemistry and Cytochemistry 49 (3): 341–6. Mar 2001. doi:10.1177/002215540104900308. PMID 11181737.
- "Synaptotagmin I functions as a calcium regulator of release probability". Nature 410 (6824): 41–9. Mar 2001. doi:10.1038/35065004. PMID 11242035.
- "Synaptotagmin-like protein 1-3: a novel family of C-terminal-type tandem C2 proteins". Biochemical and Biophysical Research Communications 281 (5): 1226–33. Mar 2001. doi:10.1006/bbrc.2001.4512. PMID 11243866.
- "Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery". The Journal of Cell Biology 153 (5): 1111–20. May 2001. doi:10.1083/jcb.153.5.1111. PMID 11381094.
- "Copper induces the assembly of a multiprotein aggregate implicated in the release of fibroblast growth factor 1 in response to stress". The Journal of Biological Chemistry 276 (27): 25549–57. Jul 2001. doi:10.1074/jbc.M102925200. PMID 11432880.
- "Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin". The Journal of Biological Chemistry 276 (35): 32756–62. Aug 2001. doi:10.1074/jbc.M100929200. PMID 11438518.
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