STXBP1

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External IDs	GeneCards: [1]
Orthologs
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	Wikidata
View/Edit Human

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.

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.

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.

[pmid9545644-1] 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-2] "Entrez Gene: STXBP1 syntaxin binding protein 1".

[pmid19067971-3] 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.

[4] STXBP1 – this is what you need to know in 2015

[pmid12773094-5] 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.

[pmid7768895-6] 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.

[pmid12963086-7] 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.

[pmid10449403-8] 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.

[pmid7553862-9] 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.

[pmid12093152-10] 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.

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STXBP1

Interactions

References

Further reading

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