SIL1

SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae), also known as SIL1, is a human gene.cite web | title = Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64374| accessdate = ]

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.cite web | title = Entrez Gene: SIL1 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64374| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=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=
*cite journal | author=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 |year= 2001 |pmid= 11101517 |doi= 10.1093/emboj/19.23.6440
*cite journal | author=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 |year= 2003 |pmid= 12356756 |doi= 10.1074/jbc.M208377200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |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
*cite journal | author=Clark HF, Gurney AL, Abaya E, "et al." |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
*cite journal | author=Lagier-Tourenne C, Tranebaerg L, Chaigne D, "et al." |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 | author=Colland F, Jacq X, Trouplin V, "et al." |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
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |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
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |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 | author=Senderek J, Krieger M, Stendel C, "et al." |title=Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. |journal=Nat. Genet. |volume=37 |issue= 12 |pages= 1312–4 |year= 2006 |pmid= 16282977 |doi= 10.1038/ng1678
*cite journal | author=Anttonen AK, Mahjneh I, Hämäläinen RH, "et al." |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 | author=Otsuki T, Ota T, Nishikawa T, "et al." |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 | author=Karim MA, Parsian AJ, Cleves MA, "et al." |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

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes