From Wikipedia, the free encyclopedia
Nucleotide exchange factor SIL1 is a protein that in humans is encoded by the SIL1 gene .[5] [6] [7] [8]
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.[8]
Interactions SIL1 has been shown to interact with Binding immunoglobulin protein .[6]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000120725 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024357 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ a b 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 . ^ a b "Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)" .
External links Further reading
Ichhaporia VP, Kim J, Kavdia K, et al. (2018). "SIL1, the endoplasmic-reticulum-localized BiP co-chaperone, plays a crucial role in maintaining skeletal muscle proteostasis and physiology" . Dis. Models Mech . 11 (5): dmm033043. doi :10.1242/dmm.033043 . PMC 5992605 PMID 29666155 . Ichhaporia VP, Sanford T, Howes J, et al. (2015). "Sil1, a nucleotide exchange factor for BiP, is not required for antibody assembly or secretion" . Mol Biol Cell . 26 (3): 420–9. doi :10.1091/mbc.E14-09-1392 . PMC 4310734 PMID 25473114 . 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. Bibcode :2002PNAS...9916899M . 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. Bibcode :2005Natur.437.1173R . 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 .
