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Gene Review

SIL1  -  SIL1 nucleotide exchange factor

Homo sapiens

Synonyms: BAP, BiP-associated protein, MSS, Nucleotide exchange factor SIL1, ULG5, ...
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Disease relevance of SIL1


High impact information on SIL1

  • We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5 [5].
  • The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone [5].
  • It has been difficult to determine whether these BiP-associated molecules represent assembly intermediates which will be displaced from BiP and transported from the cell, or whether these are aberrant proteins that are ultimately degraded [6].
  • MSI, defined as MSI high (MSI-H) or MSI-low/microsatellite stable (MSI-L/MSS), was assessed in tumors of 1,202 cases [7].
  • All point mutations in MSI-H cancers were transitions, whereas 64% of those in MSS/MSI-L cancers were transversions (P < 0.01) [2].

Biological context of SIL1

  • BAP encoded an approximately 54-kDa protein with an N-terminal endoplasmic reticulum (ER) targeting sequence, two sites of N-linked glycosylation, and a C-terminal ER retention sequence [8].
  • Together, these data demonstrate that BAP serves as a nucleotide exchange factor for BiP and provide insights into the mechanisms that control protein folding in the mammalian ER [8].
  • These residues, Tyr248, Tyr357, and Tyr462, were also found to be the major sites for Btk-dependent phosphorylation of BAP/TFII-I in vivo [9].
  • Four weeks of living high-training low improves sea-level running performance in trained runners due to altitude acclimatization (increase in red cell mass volume and VO2 max) and maintenance of sea-level training velocities, most likely accounting for the increase in velocity at VO2 max and MSS [10].
  • Maternal serum markers for trisomy 21 screening (MSS) can be assayed in women > or =35 years in an attempt to reduce the need for invasive procedures and thereby avoid their side effects [11].

Anatomical context of SIL1


Associations of SIL1 with chemical compounds

  • In particular, SBP-DPSCs differentiated into pre-osteoblasts, showing diffuse positivity for ALP, BAP, RUNX-2, and calcein [13].
  • A 5,000-m time trial was the primary measure of performance; laboratory outcomes included maximal O2 uptake (VO2 max), anaerobic capacity (accumulated O2 deficit), maximal steady state (MSS; ventilatory threshold), running economy, velocity at VO2 max, and blood compartment volumes [10].
  • However, when the protocalluses from line M 2 were treated with thidiazuron (TDZ) in a first culture step, and with BAP in a second step, the shoot formation frequency rose to 22% [14].
  • The calli showed differentiation of globular structure embryos when transferred to MS medium containing 2,4-D 0.5mgl(-1) and BAP 1.0mgl(-1) [15].
  • Plantlets were obtained in WPM medium and 10 gL-1 of sucrose with no plant regulator, or using 0.1 mgL-1 BAP and 0.5 mgL-1GA [16].

Co-localisations of SIL1


Other interactions of SIL1

  • Interestingly, recent genetic work has linked mutations in the human and murine SIL1 genes to neurodegeneration, and mutations in the human SEC63 gene to autosomal dominant polycystic liver disease [17].

Analytical, diagnostic and therapeutic context of SIL1

  • Using this multiplex polymerase chain reaction (PCR) system 29 colorectal tumour tissues with known MSI status could be unambiguously identified as MSI-H (13 cases) or MSI-L/MSS (16 cases) [18].
  • A direct fluorescent antibody (DFA) method was compared with methenamine silver staining (MSS) for the detection of Pneumocystis carinii in 384 cytological specimens [19].
  • HPV16 detection was better with PCR than Southern blot, particularly for SIL 1 and SIL 2 [20].


  1. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Senderek, J., Krieger, M., Stendel, C., Bergmann, C., Moser, M., Breitbach-Faller, N., Rudnik-Schöneborn, S., Blaschek, A., Wolf, N.I., Harting, I., North, K., Smith, J., Muntoni, F., Brockington, M., Quijano-Roy, S., Renault, F., Herrmann, R., Hendershot, L.M., Schröder, J.M., Lochmüller, H., Topaloglu, H., Voit, T., Weis, J., Ebinger, F., Zerres, K. Nat. Genet. (2005) [Pubmed]
  2. Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Mirabelli-Primdahl, L., Gryfe, R., Kim, H., Millar, A., Luceri, C., Dale, D., Holowaty, E., Bapat, B., Gallinger, S., Redston, M. Cancer Res. (1999) [Pubmed]
  3. Drugs and falls in community-dwelling older people: a national veterans study. French, D.D., Campbell, R., Spehar, A., Cunningham, F., Bulat, T., Luther, S.L. Clinical therapeutics. (2006) [Pubmed]
  4. Comparative characterization of pulmonary surfactant aggregates and alkaline phosphatase isozymes in human lung carcinoma tissue. Iino, N., Matsunaga, T., Harada, T., Igarashi, S., Koyama, I., Komoda, T. Cell Tissue Res. (2007) [Pubmed]
  5. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Anttonen, A.K., Mahjneh, I., Hämäläinen, R.H., Lagier-Tourenne, C., Kopra, O., Waris, L., Anttonen, M., Joensuu, T., Kalimo, H., Paetau, A., Tranebjaerg, L., Chaigne, D., Koenig, M., Eeg-Olofsson, O., Udd, B., Somer, M., Somer, H., Lehesjoki, A.E. Nat. Genet. (2005) [Pubmed]
  6. Immunoglobulin heavy chain and binding protein complexes are dissociated in vivo by light chain addition. Hendershot, L.M. J. Cell Biol. (1990) [Pubmed]
  7. Risk of microsatellite-unstable colorectal cancer is associated jointly with smoking and nonsteroidal anti-inflammatory drug use. Chia, V.M., Newcomb, P.A., Bigler, J., Morimoto, L.M., Thibodeau, S.N., Potter, J.D. Cancer Res. (2006) [Pubmed]
  8. BAP, a mammalian BiP-associated protein, is a nucleotide exchange factor that regulates the ATPase activity of BiP. Chung, K.T., Shen, Y., Hendershot, L.M. J. Biol. Chem. (2002) [Pubmed]
  9. Identification of phosphorylation sites for Bruton's tyrosine kinase within the transcriptional regulator BAP/TFII-I. Egloff, A.M., Desiderio, S. J. Biol. Chem. (2001) [Pubmed]
  10. "Living high-training low": effect of moderate-altitude acclimatization with low-altitude training on performance. Levine, B.D., Stray-Gundersen, J. J. Appl. Physiol. (1997) [Pubmed]
  11. Detection and false-positive rates of maternal serum markers for Down syndrome screening according to maternal age in women over 35 years of age. A study of the agreement of eight dedicated software packages. Muller, F., Thalabard, J.C., Ngo, S., Dommergues, M. Prenat. Diagn. (2002) [Pubmed]
  12. Silica-precipitating peptides from diatoms. The chemical structure of silaffin-A from Cylindrotheca fusiformis. Kröger, N., Deutzmann, R., Sumper, M. J. Biol. Chem. (2001) [Pubmed]
  13. Long-term cryopreservation of dental pulp stem cells (SBP-DPSCs) and their differentiated osteoblasts: a cell source for tissue repair. Papaccio, G., Graziano, A., d'Aquino, R., Graziano, M.F., Pirozzi, G., Menditti, D., De Rosa, A., Carinci, F., Laino, G. J. Cell. Physiol. (2006) [Pubmed]
  14. Plant Regeneration from Mesophyll and Suspension Protoplasts of Silybum marianum. Hetz, E., Perales, E.H., Liersch, R., Schieder, O. Planta Med. (1995) [Pubmed]
  15. Somatic embryogenesis and plant regeneration from leaf callus of Ocimum basilicum L. Gopi, C., Ponmurugan, P. J. Biotechnol. (2006) [Pubmed]
  16. In vitro regeneration of Didymopanax morototoni. Franco, E.T., Gavioli, L.B., Ferreira, A.G. Brazilian journal of biology = Revista brasleira de biologia. (2006) [Pubmed]
  17. Protein transport into the endoplasmic reticulum: mechanisms and pathologies. Zimmermann, R., M??ller, L., Wullich, B. Trends in molecular medicine (2006) [Pubmed]
  18. Molecular screening of potential HNPCC patients using a multiplex microsatellite PCR system. Sutter, C., Gebert, J., Bischoff, P., Herfarth, C., von Knebel Doeberitz, M. Mol. Cell. Probes (1999) [Pubmed]
  19. The value of direct fluorescent antibody (DFA) testing for the detection of Pneumocystis carinii in cytological specimens. Halford, J.A., Shield, P.W., Wright, R.G. Cytopathology (1994) [Pubmed]
  20. Detection of human papillomavirus in squamous intraepithelial lesions by consensus and type-specific polymerase chain reaction. Coste-Burel, M., Besse, B., Moreau, A., Imbert, B.M., Mensier, A., Sagot, P., Lopes, P., Billaudel, S. Eur. J. Obstet. Gynecol. Reprod. Biol. (1993) [Pubmed]
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