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{{ | '''Nucleotide exchange factor SIL1''' is a [[protein]] that in humans is encoded by the ''SIL1'' [[gene]].<ref name="pmid11101517">{{cite journal | vauthors = Tyson JR, Stirling CJ | title = LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum | journal = EMBO J | volume = 19 | issue = 23 | pages = 6440–52 |date=Dec 2000 | pmid = 11101517 | pmc = 305876 | doi = 10.1093/emboj/19.23.6440 }}</ref><ref name="pmid12356756">{{cite journal | vauthors = Chung KT, Shen Y, Hendershot LM | title = BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP | journal = J Biol Chem | volume = 277 | issue = 49 | pages = 47557–63 |date=Nov 2002 | pmid = 12356756 | pmc = | doi = 10.1074/jbc.M208377200 }}</ref><ref name="pmid16282977">{{cite journal | vauthors = Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K | title = Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy | journal = Nat Genet | volume = 37 | issue = 12 | pages = 1312–4 |date=Nov 2005 | pmid = 16282977 | pmc = | doi = 10.1038/ng1678 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64374| accessdate = }}</ref> | ||
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| summary_text = This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized.<ref name="entrez" | | summary_text = This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with [[Marinesco-Sjogren syndrome]]. Alternate transcriptional splice variants have been characterized.<ref name="entrez"/> | ||
}} | }} | ||
==Interactions== | |||
SIL1 has been shown to [[Protein-protein interaction|interact]] with [[Binding immunoglobulin protein]].<ref name=pmid12356756 /> | |||
==References== | ==References== | ||
{{reflist | {{reflist}} | ||
==External links== | |||
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mss GeneReviews/NCBI/NIH/UW entry on Marinesco-Sjögren Syndrome] | |||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal | | *{{cite journal | vauthors=Keats B, Ott J, Conneally M |title=Report of the committee on linkage and gene order. |journal=Cytogenet. Cell Genet. |volume=51 |issue= 1–4 |pages= 459–502 |year= 1989 |pmid= 2791656 |doi=10.1159/000132805 }} | ||
*{{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }} | |||
*{{cite journal |vauthors=Clark HF, Gurney AL, Abaya E, etal |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 }} | |||
*{{cite journal | *{{cite journal |vauthors=Lagier-Tourenne C, Tranebaerg L, Chaigne D, etal |title=Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31 |journal=Eur. J. Hum. Genet. |volume=11 |issue= 10 |pages= 770–8 |year= 2004 |pmid= 14512967 |doi= 10.1038/sj.ejhg.5201068 }} | ||
*{{cite journal | *{{cite journal |vauthors=Colland F, Jacq X, Trouplin V, etal |title=Functional proteomics mapping of a human signaling pathway |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324–32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 | pmc=442148 }} | ||
*{{cite journal | *{{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }} | ||
*{{cite journal | *{{cite journal |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }} | ||
*{{cite journal | *{{cite journal |vauthors=Anttonen AK, Mahjneh I, Hämäläinen RH, etal |title=The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone |journal=Nat. Genet. |volume=37 |issue= 12 |pages= 1309–11 |year= 2006 |pmid= 16282978 |doi= 10.1038/ng1677 }} | ||
*{{cite journal | *{{cite journal |vauthors=Otsuki T, Ota T, Nishikawa T, etal |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }} | ||
*{{cite journal | *{{cite journal |vauthors=Karim MA, Parsian AJ, Cleves MA, etal |title=A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree |journal=Clin. Genet. |volume=70 |issue= 5 |pages= 420–3 |year= 2006 |pmid= 17026626 |doi= 10.1111/j.1399-0004.2006.00695.x }} | ||
*{{cite journal | |||
*{{cite journal | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
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Latest revision as of 06:21, 11 September 2017
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| External IDs | GeneCards: [1] | ||||||
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| Species | Human | Mouse | |||||
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| Location (UCSC) | n/a | n/a | |||||
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Nucleotide exchange factor SIL1 is a protein that in humans is encoded by the SIL1 gene.[1][2][3][4]
This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized.[4]
Interactions
SIL1 has been shown to interact with Binding immunoglobulin protein.[2]
References
- ↑ Tyson JR, Stirling CJ (Dec 2000). "LHS1 and SIL1 provide a lumenal function that is essential for protein translocation into the endoplasmic reticulum". EMBO J. 19 (23): 6440–52. doi:10.1093/emboj/19.23.6440. PMC 305876. PMID 11101517.
- ↑ 2.0 2.1 Chung KT, Shen Y, Hendershot LM (Nov 2002). "BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP". J Biol Chem. 277 (49): 47557–63. doi:10.1074/jbc.M208377200. PMID 12356756.
- ↑ Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K (Nov 2005). "Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy". Nat Genet. 37 (12): 1312–4. doi:10.1038/ng1678. PMID 16282977.
- ↑ 4.0 4.1 "Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)".
External links
Further reading
- Keats B, Ott J, Conneally M (1989). "Report of the committee on linkage and gene order". Cytogenet. Cell Genet. 51 (1–4): 459–502. doi:10.1159/000132805. PMID 2791656.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- Lagier-Tourenne C, Tranebaerg L, Chaigne D, et al. (2004). "Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31". Eur. J. Hum. Genet. 11 (10): 770–8. doi:10.1038/sj.ejhg.5201068. PMID 14512967.
- Colland F, Jacq X, Trouplin V, et al. (2004). "Functional proteomics mapping of a human signaling pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC 442148. PMID 15231748.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Anttonen AK, Mahjneh I, Hämäläinen RH, et al. (2006). "The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone". Nat. Genet. 37 (12): 1309–11. doi:10.1038/ng1677. PMID 16282978.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Karim MA, Parsian AJ, Cleves MA, et al. (2006). "A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree". Clin. Genet. 70 (5): 420–3. doi:10.1111/j.1399-0004.2006.00695.x. PMID 17026626.
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