Biology:GOSR2
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Golgi SNAP receptor complex member 2 is a protein that in humans is encoded by the GOSR2 gene.[1][2][3]
Function
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. Three transcript variants encoding three different isoforms have been found for this gene.[3]
Mutations in the GOSR2 gene are linked with North Sea progressive myoclonus epilepsy (NS-PME),[4] a rare subtype of progressive myoclonus epilepsy that is prevalent in northern Europe.[5]
Interactions
GOSR2 has been shown to interact with USO1[6][7] and STX5.[6][8][9]
References
- ↑ "A SNARE involved in protein transport through the Golgi apparatus". Nature 389 (6653): 881–4. October 1997. doi:10.1038/39923. PMID 9349823. Bibcode: 1997Natur.389..881L.
- ↑ "cDNA characterization and chromosomal mapping of human golgi SNARE GS27 and GS28 to chromosome 17". Genomics 57 (2): 285–8. April 1999. doi:10.1006/geno.1998.5649. PMID 10198168.
- ↑ 3.0 3.1 "Entrez Gene: GOSR2 golgi SNAP receptor complex member 2". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9570.
- ↑ "'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation". Brain 136 (Pt 4): 1146–54. April 2013. doi:10.1093/brain/awt021. PMID 23449775.
- ↑ "North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia". Neuroscience 423: 1–11. December 2019. doi:10.1016/j.neuroscience.2019.10.035. PMID 31682953. https://research.rug.nl/en/publications/9ead118c-2c01-40a7-bdc2-0958c6ea2fce.
- ↑ 6.0 6.1 "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115". The Journal of Cell Biology 157 (1): 45–62. April 2002. doi:10.1083/jcb.200112127. PMID 11927603.
- ↑ "Rab1 recruitment of p115 into a cis-SNARE complex: programming budding COPII vesicles for fusion". Science 289 (5478): 444–8. July 2000. doi:10.1126/science.289.5478.444. PMID 10903204. Bibcode: 2000Sci...289..444A.
- ↑ "Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells". Cell 89 (1): 149–58. April 1997. doi:10.1016/S0092-8674(00)80191-9. PMID 9094723.
- ↑ "Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs". The Journal of Cell Biology 141 (7): 1489–502. June 1998. doi:10.1083/jcb.141.7.1489. PMID 9647643.
Further reading
- "Protein interactions regulating vesicle transport between the endoplasmic reticulum and Golgi apparatus in mammalian cells". Cell 89 (1): 149–58. April 1997. doi:10.1016/S0092-8674(00)80191-9. PMID 9094723.
- "Localization, dynamics, and protein interactions reveal distinct roles for ER and Golgi SNAREs". The Journal of Cell Biology 141 (7): 1489–502. June 1998. doi:10.1083/jcb.141.7.1489. PMID 9647643.
- "Subunit structure of a mammalian ER/Golgi SNARE complex". The Journal of Biological Chemistry 275 (50): 39631–9. December 2000. doi:10.1074/jbc.M007684200. PMID 11035026.
- "Sequential tethering of Golgins and catalysis of SNAREpin assembly by the vesicle-tethering protein p115". The Journal of Cell Biology 157 (1): 45–62. April 2002. doi:10.1083/jcb.200112127. PMID 11927603.
- "Targeting of Arf-1 to the early Golgi by membrin, an ER-Golgi SNARE". The Journal of Cell Biology 168 (7): 1039–51. March 2005. doi:10.1083/jcb.200409138. PMID 15781476.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. October 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "Transcriptome analysis of human gastric cancer". Mammalian Genome 16 (12): 942–54. December 2005. doi:10.1007/s00335-005-0075-2. PMID 16341674.
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