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{{ | '''Syntaxin-binding protein 1''' (also known as [[Munc18|Munc18-1]]) is a [[protein]] that in humans is encoded by the ''STXBP1'' [[gene]].<ref name="pmid9545644">{{cite journal | vauthors = Swanson DA, Steel JM, Valle D | title = Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release | journal = Genomics | volume = 48 | issue = 3 | pages = 373–6 | date = Jun 1998 | pmid = 9545644 | pmc = | doi = 10.1006/geno.1997.5202 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: STXBP1 syntaxin binding protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6812| accessdate = }}</ref> | ||
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In melanocytic cells STXBP1 gene expression may be regulated by [[Microphthalmia-associated transcription factor|MITF]].<ref name="pmid19067971">{{cite journal | vauthors = Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x }}</ref> | |||
< | This gene was initially discovered in 2008 as cause for [[Ohtahara Syndrome]]. Ever since, it has become one of the most prominent genes for epileptic encephalopathies so far.<ref>[http://epilepsygenetics.net/2015/08/04/stxbp1-this-is-what-you-need-to-know-in-2015/ STXBP1 – this is what you need to know in 2015]</ref> | ||
==References== | == Interactions == | ||
{{reflist | |||
==Further reading== | STXBP1 has been shown to [[Protein-protein interaction|interact]] with [[STX2]],<ref name=pmid12773094>{{cite journal | vauthors = Schraw TD, Lemons PP, Dean WL, Whiteheart SW | title = A role for Sec1/Munc18 proteins in platelet exocytosis | journal = Biochem. J. | volume = 374 | issue = Pt 1 | pages = 207–17 | date = Aug 2003 | pmid = 12773094 | pmc = 1223584 | doi = 10.1042/BJ20030610 }}</ref><ref name=pmid7768895>{{cite journal | vauthors = Hata Y, Südhof TC | title = A novel ubiquitous form of Munc-18 interacts with multiple syntaxins. Use of the yeast two-hybrid system to study interactions between proteins involved in membrane traffic | journal = J. Biol. Chem. | volume = 270 | issue = 22 | pages = 13022–8 | date = Jun 1995 | pmid = 7768895 | doi = 10.1074/jbc.270.22.13022 }}</ref> [[STX4]]<ref name=pmid12773094/><ref name=pmid7768895/> and [[STX1A]].<ref name=pmid7768895/><ref name=pmid12963086>{{cite journal | vauthors = Bhaskar K, Shareef MM, Sharma VM, Shetty AP, Ramamohan Y, Pant HC, Raju TR, Shetty KT | title = Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins | journal = Neurochem. Int. | volume = 44 | issue = 1 | pages = 35–44 | date = Jan 2004 | pmid = 12963086 | doi = 10.1016/S0197-0186(03)00099-8 }}</ref><ref name=pmid10449403>{{cite journal | vauthors = Dulubova I, Sugita S, Hill S, Hosaka M, Fernandez I, Südhof TC, Rizo J | title = A conformational switch in syntaxin during exocytosis: role of munc18 | journal = EMBO J. | volume = 18 | issue = 16 | pages = 4372–82 | date = Aug 1999 | pmid = 10449403 | pmc = 1171512 | doi = 10.1093/emboj/18.16.4372 }}</ref><ref name=pmid7553862>{{cite journal | vauthors = McMahon HT, Missler M, Li C, Südhof TC | title = Complexins: cytosolic proteins that regulate SNAP receptor function | journal = Cell | volume = 83 | issue = 1 | pages = 111–9 | date = Oct 1995 | pmid = 7553862 | doi = 10.1016/0092-8674(95)90239-2 }}</ref><ref name=pmid12093152>{{cite journal | vauthors = Pérez-Brangulí F, Muhaisen A, Blasi J | title = Munc 18a binding to syntaxin 1A and 1B isoforms defines its localization at the plasma membrane and blocks SNARE assembly in a three-hybrid system assay | journal = Mol. Cell. Neurosci. | volume = 20 | issue = 2 | pages = 169–80 | date = Jun 2002 | pmid = 12093152 | doi = 10.1006/mcne.2002.1122 }}</ref> | ||
== References == | |||
{{reflist}} | |||
== Further reading == | |||
{{refbegin | 2}} | {{refbegin | 2}} | ||
* {{cite journal | vauthors = Garcia EP, McPherson PS, Chilcote TJ, Takei K, De Camilli P | title = rbSec1A and B colocalize with syntaxin 1 and SNAP-25 throughout the axon, but are not in a stable complex with syntaxin | journal = J. Cell Biol. | volume = 129 | issue = 1 | pages = 105–20 | year = 1995 | pmid = 7698978 | pmc = 2120371 | doi = 10.1083/jcb.129.1.105 }} | |||
* {{cite journal | vauthors = Pevsner J, Hsu SC, Scheller RH | title = n-Sec1: a neural-specific syntaxin-binding protein | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 91 | issue = 4 | pages = 1445–9 | year = 1994 | pmid = 8108429 | pmc = 43176 | doi = 10.1073/pnas.91.4.1445 }} | |||
*{{cite journal | * {{cite journal | vauthors = Fujita Y, Sasaki T, Fukui K, Kotani H, Kimura T, Hata Y, Südhof TC, Scheller RH, Takai Y | title = Phosphorylation of Munc-18/n-Sec1/rbSec1 by protein kinase C: its implication in regulating the interaction of Munc-18/n-Sec1/rbSec1 with syntaxin | journal = J. Biol. Chem. | volume = 271 | issue = 13 | pages = 7265–8 | year = 1996 | pmid = 8631738 | doi = 10.1074/jbc.271.13.7265 }} | ||
* {{cite journal | vauthors = Gengyo-Ando K, Kitayama H, Mukaida M, Ikawa Y | title = A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants | journal = J. Neurosci. | volume = 16 | issue = 21 | pages = 6695–702 | year = 1996 | pmid = 8824310 | doi = }} | |||
*{{cite journal | * {{cite journal | vauthors = Tellam JT, Macaulay SL, McIntosh S, Hewish DR, Ward CW, James DE | title = Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes. Putative role in insulin-dependent movement of GLUT-4 | journal = J. Biol. Chem. | volume = 272 | issue = 10 | pages = 6179–86 | year = 1997 | pmid = 9045631 | doi = 10.1074/jbc.272.10.6179 }} | ||
* {{cite journal | vauthors = Verhage M, de Vries KJ, Røshol H, Burbach JP, Gispen WH, Südhof TC | title = DOC2 proteins in rat brain: complementary distribution and proposed function as vesicular adapter proteins in early stages of secretion | journal = Neuron | volume = 18 | issue = 3 | pages = 453–61 | year = 1997 | pmid = 9115738 | doi = 10.1016/S0896-6273(00)81245-3 }} | |||
*{{cite journal | * {{cite journal | vauthors = Okamoto M, Südhof TC | title = Mints, Munc18-interacting proteins in synaptic vesicle exocytosis | journal = J. Biol. Chem. | volume = 272 | issue = 50 | pages = 31459–64 | year = 1997 | pmid = 9395480 | doi = 10.1074/jbc.272.50.31459 }} | ||
*{{cite journal | * {{cite journal | vauthors = Fletcher AI, Shuang R, Giovannucci DR, Zhang L, Bittner MA, Stuenkel EL | title = Regulation of exocytosis by cyclin-dependent kinase 5 via phosphorylation of Munc18 | journal = J. Biol. Chem. | volume = 274 | issue = 7 | pages = 4027–35 | year = 1999 | pmid = 9933594 | doi = 10.1074/jbc.274.7.4027 }} | ||
*{{cite journal | * {{cite journal | vauthors = Reed GL, Houng AK, Fitzgerald ML | title = Human platelets contain SNARE proteins and a Sec1p homologue that interacts with syntaxin 4 and is phosphorylated after thrombin activation: implications for platelet secretion | journal = Blood | volume = 93 | issue = 8 | pages = 2617–26 | year = 1999 | pmid = 10194441 | doi = }} | ||
*{{cite journal | * {{cite journal | vauthors = Dulubova I, Sugita S, Hill S, Hosaka M, Fernandez I, Südhof TC, Rizo J | title = A conformational switch in syntaxin during exocytosis: role of munc18 | journal = EMBO J. | volume = 18 | issue = 16 | pages = 4372–82 | year = 1999 | pmid = 10449403 | pmc = 1171512 | doi = 10.1093/emboj/18.16.4372 }} | ||
*{{cite journal | * {{cite journal | vauthors = Misura KM, Scheller RH, Weis WI | title = Three-dimensional structure of the neuronal-Sec1-syntaxin 1a complex | journal = Nature | volume = 404 | issue = 6776 | pages = 355–62 | year = 2000 | pmid = 10746715 | doi = 10.1038/35006120 }} | ||
*{{cite journal | * {{cite journal | vauthors = Allan BB, Moyer BD, Balch WE | title = Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion | journal = Science | volume = 289 | issue = 5478 | pages = 444–8 | year = 2000 | pmid = 10903204 | doi = 10.1126/science.289.5478.444 }} | ||
*{{cite journal | * {{cite journal | vauthors = Shorter J, Beard MB, Seemann J, Dirac-Svejstrup AB, Warren G | title = Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115 | journal = J. Cell Biol. | volume = 157 | issue = 1 | pages = 45–62 | year = 2002 | pmid = 11927603 | pmc = 2173270 | doi = 10.1083/jcb.200112127 }} | ||
*{{cite journal | * {{cite journal | vauthors = Ho CS, Marinescu V, Steinhilb ML, Gaut JR, Turner RS, Stuenkel EL | title = Synergistic effects of Munc18a and X11 proteins on amyloid precursor protein metabolism | journal = J. Biol. Chem. | volume = 277 | issue = 30 | pages = 27021–8 | year = 2002 | pmid = 12016213 | doi = 10.1074/jbc.M201823200 }} | ||
*{{cite journal | * {{cite journal | vauthors = Pérez-Brangulí F, Muhaisen A, Blasi J | title = Munc 18a binding to syntaxin 1A and 1B isoforms defines its localization at the plasma membrane and blocks SNARE assembly in a three-hybrid system assay | journal = Mol. Cell. Neurosci. | volume = 20 | issue = 2 | pages = 169–80 | year = 2002 | pmid = 12093152 | doi = 10.1006/mcne.2002.1122 }} | ||
*{{cite journal | * {{cite journal | vauthors = Barclay JW, Craig TJ, Fisher RJ, Ciufo LF, Evans GJ, Morgan A, Burgoyne RD | title = Phosphorylation of Munc18 by protein kinase C regulates the kinetics of exocytosis | journal = J. Biol. Chem. | volume = 278 | issue = 12 | pages = 10538–45 | year = 2003 | pmid = 12519779 | doi = 10.1074/jbc.M211114200 }} | ||
*{{cite journal | * {{cite journal | vauthors = Fukuda M | title = Slp4-a/granuphilin-a inhibits dense-core vesicle exocytosis through interaction with the GDP-bound form of Rab27A in PC12 cells | journal = J. Biol. Chem. | volume = 278 | issue = 17 | pages = 15390–6 | year = 2003 | pmid = 12590134 | doi = 10.1074/jbc.M213090200 }} | ||
*{{cite journal | * {{cite journal | vauthors = Craig TJ, Evans GJ, Morgan A | title = Physiological regulation of Munc18/nSec1 phosphorylation on serine-313 | journal = J. Neurochem. | volume = 86 | issue = 6 | pages = 1450–7 | year = 2003 | pmid = 12950453 | doi = 10.1046/j.1471-4159.2003.01955.x }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | |||
{{refend}} | {{refend}} | ||
{{ | {{PDB Gallery|geneid=6812}} | ||
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{{gene-9-stub}} |
Revision as of 21:14, 30 October 2017
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Species | Human | Mouse | |||||
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Location (UCSC) | n/a | n/a | |||||
PubMed search | n/a | n/a | |||||
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Syntaxin-binding protein 1 (also known as Munc18-1) is a protein that in humans is encoded by the STXBP1 gene.[1][2]
In melanocytic cells STXBP1 gene expression may be regulated by MITF.[3]
This gene was initially discovered in 2008 as cause for Ohtahara Syndrome. Ever since, it has become one of the most prominent genes for epileptic encephalopathies so far.[4]
Interactions
STXBP1 has been shown to interact with STX2,[5][6] STX4[5][6] and STX1A.[6][7][8][9][10]
References
- ↑ Swanson DA, Steel JM, Valle D (Jun 1998). "Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release". Genomics. 48 (3): 373–6. doi:10.1006/geno.1997.5202. PMID 9545644.
- ↑ "Entrez Gene: STXBP1 syntaxin binding protein 1".
- ↑ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
- ↑ STXBP1 – this is what you need to know in 2015
- ↑ 5.0 5.1 Schraw TD, Lemons PP, Dean WL, Whiteheart SW (Aug 2003). "A role for Sec1/Munc18 proteins in platelet exocytosis". Biochem. J. 374 (Pt 1): 207–17. doi:10.1042/BJ20030610. PMC 1223584. PMID 12773094.
- ↑ 6.0 6.1 6.2 Hata Y, Südhof TC (Jun 1995). "A novel ubiquitous form of Munc-18 interacts with multiple syntaxins. Use of the yeast two-hybrid system to study interactions between proteins involved in membrane traffic". J. Biol. Chem. 270 (22): 13022–8. doi:10.1074/jbc.270.22.13022. PMID 7768895.
- ↑ Bhaskar K, Shareef MM, Sharma VM, Shetty AP, Ramamohan Y, Pant HC, Raju TR, Shetty KT (Jan 2004). "Co-purification and localization of Munc18-1 (p67) and Cdk5 with neuronal cytoskeletal proteins". Neurochem. Int. 44 (1): 35–44. doi:10.1016/S0197-0186(03)00099-8. PMID 12963086.
- ↑ Dulubova I, Sugita S, Hill S, Hosaka M, Fernandez I, Südhof TC, Rizo J (Aug 1999). "A conformational switch in syntaxin during exocytosis: role of munc18". EMBO J. 18 (16): 4372–82. doi:10.1093/emboj/18.16.4372. PMC 1171512. PMID 10449403.
- ↑ McMahon HT, Missler M, Li C, Südhof TC (Oct 1995). "Complexins: cytosolic proteins that regulate SNAP receptor function". Cell. 83 (1): 111–9. doi:10.1016/0092-8674(95)90239-2. PMID 7553862.
- ↑ Pérez-Brangulí F, Muhaisen A, Blasi J (Jun 2002). "Munc 18a binding to syntaxin 1A and 1B isoforms defines its localization at the plasma membrane and blocks SNARE assembly in a three-hybrid system assay". Mol. Cell. Neurosci. 20 (2): 169–80. doi:10.1006/mcne.2002.1122. PMID 12093152.
Further reading
- Garcia EP, McPherson PS, Chilcote TJ, Takei K, De Camilli P (1995). "rbSec1A and B colocalize with syntaxin 1 and SNAP-25 throughout the axon, but are not in a stable complex with syntaxin". J. Cell Biol. 129 (1): 105–20. doi:10.1083/jcb.129.1.105. PMC 2120371. PMID 7698978.
- Pevsner J, Hsu SC, Scheller RH (1994). "n-Sec1: a neural-specific syntaxin-binding protein". Proc. Natl. Acad. Sci. U.S.A. 91 (4): 1445–9. doi:10.1073/pnas.91.4.1445. PMC 43176. PMID 8108429.
- Fujita Y, Sasaki T, Fukui K, Kotani H, Kimura T, Hata Y, Südhof TC, Scheller RH, Takai Y (1996). "Phosphorylation of Munc-18/n-Sec1/rbSec1 by protein kinase C: its implication in regulating the interaction of Munc-18/n-Sec1/rbSec1 with syntaxin". J. Biol. Chem. 271 (13): 7265–8. doi:10.1074/jbc.271.13.7265. PMID 8631738.
- Gengyo-Ando K, Kitayama H, Mukaida M, Ikawa Y (1996). "A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants". J. Neurosci. 16 (21): 6695–702. PMID 8824310.
- Tellam JT, Macaulay SL, McIntosh S, Hewish DR, Ward CW, James DE (1997). "Characterization of Munc-18c and syntaxin-4 in 3T3-L1 adipocytes. Putative role in insulin-dependent movement of GLUT-4". J. Biol. Chem. 272 (10): 6179–86. doi:10.1074/jbc.272.10.6179. PMID 9045631.
- Verhage M, de Vries KJ, Røshol H, Burbach JP, Gispen WH, Südhof TC (1997). "DOC2 proteins in rat brain: complementary distribution and proposed function as vesicular adapter proteins in early stages of secretion". Neuron. 18 (3): 453–61. doi:10.1016/S0896-6273(00)81245-3. PMID 9115738.
- Okamoto M, Südhof TC (1997). "Mints, Munc18-interacting proteins in synaptic vesicle exocytosis". J. Biol. Chem. 272 (50): 31459–64. doi:10.1074/jbc.272.50.31459. PMID 9395480.
- Fletcher AI, Shuang R, Giovannucci DR, Zhang L, Bittner MA, Stuenkel EL (1999). "Regulation of exocytosis by cyclin-dependent kinase 5 via phosphorylation of Munc18". J. Biol. Chem. 274 (7): 4027–35. doi:10.1074/jbc.274.7.4027. PMID 9933594.
- Reed GL, Houng AK, Fitzgerald ML (1999). "Human platelets contain SNARE proteins and a Sec1p homologue that interacts with syntaxin 4 and is phosphorylated after thrombin activation: implications for platelet secretion". Blood. 93 (8): 2617–26. PMID 10194441.
- Dulubova I, Sugita S, Hill S, Hosaka M, Fernandez I, Südhof TC, Rizo J (1999). "A conformational switch in syntaxin during exocytosis: role of munc18". EMBO J. 18 (16): 4372–82. doi:10.1093/emboj/18.16.4372. PMC 1171512. PMID 10449403.
- Misura KM, Scheller RH, Weis WI (2000). "Three-dimensional structure of the neuronal-Sec1-syntaxin 1a complex". Nature. 404 (6776): 355–62. doi:10.1038/35006120. PMID 10746715.
- Allan BB, Moyer BD, Balch WE (2000). "Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion". Science. 289 (5478): 444–8. doi:10.1126/science.289.5478.444. PMID 10903204.
- Shorter J, Beard MB, Seemann J, Dirac-Svejstrup AB, Warren G (2002). "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115". J. Cell Biol. 157 (1): 45–62. doi:10.1083/jcb.200112127. PMC 2173270. PMID 11927603.
- Ho CS, Marinescu V, Steinhilb ML, Gaut JR, Turner RS, Stuenkel EL (2002). "Synergistic effects of Munc18a and X11 proteins on amyloid precursor protein metabolism". J. Biol. Chem. 277 (30): 27021–8. doi:10.1074/jbc.M201823200. PMID 12016213.
- Pérez-Brangulí F, Muhaisen A, Blasi J (2002). "Munc 18a binding to syntaxin 1A and 1B isoforms defines its localization at the plasma membrane and blocks SNARE assembly in a three-hybrid system assay". Mol. Cell. Neurosci. 20 (2): 169–80. doi:10.1006/mcne.2002.1122. PMID 12093152.
- Barclay JW, Craig TJ, Fisher RJ, Ciufo LF, Evans GJ, Morgan A, Burgoyne RD (2003). "Phosphorylation of Munc18 by protein kinase C regulates the kinetics of exocytosis". J. Biol. Chem. 278 (12): 10538–45. doi:10.1074/jbc.M211114200. PMID 12519779.
- Fukuda M (2003). "Slp4-a/granuphilin-a inhibits dense-core vesicle exocytosis through interaction with the GDP-bound form of Rab27A in PC12 cells". J. Biol. Chem. 278 (17): 15390–6. doi:10.1074/jbc.M213090200. PMID 12590134.
- Craig TJ, Evans GJ, Morgan A (2003). "Physiological regulation of Munc18/nSec1 phosphorylation on serine-313". J. Neurochem. 86 (6): 1450–7. doi:10.1046/j.1471-4159.2003.01955.x. PMID 12950453.
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