SIL1 edit SIL1 nukleotidni faktor razmene Identifikatori Simboli SIL1; BAP; MSS; ULG5 Vanjski ID OMIM: 608005 MGI: 1932040 HomoloGene: 32544 GeneCards: SIL1 Gene Ontologija gena Molekulska funkcija • vezivanje nesavijenog proteina Ćelijska komponenta • ekstracelularni prostor • endoplazmični retikulum • lumen endoplazmičnog retikuluma Biološki proces • proteinsko savijanje • intracelularni proteinski transport Pregled RNK izražavanja podaci Ortolozi Vrsta Čovek Miš Entrez 64374 81500 Ensembl ENSG00000120725 ENSMUSG00000024357 UniProt Q9H173 Q9EPK6 Ref. Sekv. (iRNK) NM_001037633 NM_030749 Ref. Sekv. (protein) NP_001032722 NP_109674 Lokacija (UCSC) Chr 5: 138.28 - 138.63 Mb Chr 18: 35.27 - 35.5 Mb PubMed pretraga [1] [2] Faktor nukleotidne razmene SIL1 je protein koji je kod čoveka kodiran SIL1 genom.[1][2][3][4] Interakcije SIL1 formira interakcije sa vezujućim imunoglobulinskim proteinom.[2] Reference ↑ 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.  Greška u referenci: Nevaljana oznaka <ref>; naziv "pmid12356756" je zadan više puta s različitim sadržajem ↑ 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.  ↑ „Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)”.  Literatura 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.  Vanjske veze GeneReviews/NCBI/NIH/UW entry on Marinesco-Sjögren Syndrome

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