| 释义 |
- Interactions
- References
- External links
- Further reading
{{Infobox_gene}}Nucleotide exchange factor SIL1 is a protein that in humans is encoded by the SIL1 gene.[1][2][3][4]{{PBB_Summary
| section_title =
| 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.[4]
}}InteractionsSIL1 has been shown to interact with Binding immunoglobulin protein.[2] References1. ^{{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 }}
2. ^1 {{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 }}
3. ^{{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 }}
4. ^1 {{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 = }}
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{{refbegin | 2}}- {{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 |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 |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 |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 |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 |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 |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 |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 }}
{{refend}}{{GTP-binding protein regulators}}{{gene-5-stub}} |