SIL1

SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)
Identifiers
Symbols	SIL1 ; BAP
External IDs	Template:OMIM5 Template:MGI HomoloGene: 32544
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SIL1 218436 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae), also known as SIL1, is a human gene.

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.

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. PMID 2791656.CS1 maint: Multiple names: authors list (link)
• Tyson JR, Stirling CJ (2001). "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. PMID 11101517.
• Chung KT, Shen Y, Hendershot LM (2003). "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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12975309.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15231748.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Senderek J, Krieger M, Stendel C; et al. (2006). "Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy". Nat. Genet. 37 (12): 1312–4. doi:10.1038/ng1678. PMID 16282977.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)