|Application ||WB, E|
|Other Accession||NP_001032722, 64374|
|Calculated MW||52085 Da|
|Other Names||Nucleotide exchange factor SIL1, BiP-associated protein, BAP, SIL1|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-BAP / SIL1 Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5.|
|Cellular Location||Endoplasmic reticulum lumen|
|Tissue Location||Highly expressed in tissues which produce large amounts of secreted proteins such as kidney, liver and placenta. Also expressed in colon, heart, lung, ovary, pancreas, peripheral leukocyte, prostate, spleen and thymus. Expressed at low levels throughout the brain.|
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Provided below are standard protocols that you may find useful for product applications.
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.
Interactions between Kar2p and its nucleotide exchange factors Sil1p and Lhs1p are mechanistically distinct. Hale SJ, et al. J Biol Chem, 2010 Jul 9. PMID 20430899.
Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31. Riazuddin SA, et al. Mol Vis, 2009 May 22. PMID 19471582.
Identification of a new homozygous frameshift insertion mutation in the SIL1 gene in 3 Japanese patients with Marinesco-Sj枚gren syndrome. Eriguchi M, et al. J Neurol Sci, 2008 Jul 15. PMID 18395226.
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sj枚gren syndrome. Anttonen AK, et al. Eur J Hum Genet, 2008 Aug. PMID 18285827.
A novel mutation in BAP/SIL1 gene causes Marinesco-Sj枚gren syndrome in an extended pedigree. Karim MA, et al. Clin Genet, 2006 Nov. PMID 17026626.
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