Gene Review:
MBTPS2 - membrane-bound transcription factor...
Homo sapiens
Synonyms:
BRESEK, Endopeptidase S2P, IFAP, KFSD, KFSDX, ...
- YaeL (EcfE) activates the sigma(E) pathway of stress response through a site-2 cleavage of anti-sigma(E), RseA. Kanehara, K., Ito, K., Akiyama, Y. Genes Dev. (2002)
- IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Oeffner, F., Fischer, G., Happle, R., König, A., Betz, R.C., Bornholdt, D., Neidel, U., Boente Mdel, C., Redler, S., Romero-Gomez, J., Salhi, A., Vera-Casaño, A., Weirich, C., Grzeschik, K.H. Am. J. Hum. Genet. (2009)
- Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Aten, E., Brasz, L.C., Bornholdt, D., Hooijkaas, I.B., Porteous, M.E., Sybert, V.P., Vermeer, M.H., Vossen, R.H., van der Wielen, M.J., Bakker, E., Breuning, M.H., Grzeschik, K.H., Oosterwijk, J.C., den Dunnen, J.T. Hum. Mutat. (2010)
- MBTPS2 mutation causes BRESEK/BRESHECK syndrome. Naiki, M., Mizuno, S., Yamada, K., Yamada, Y., Kimura, R., Oshiro, M., Okamoto, N., Makita, Y., Seishima, M., Wakamatsu, N. Am. J. Med. Genet. A. (2011)
- IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response. Lee, K., Tirasophon, W., Shen, X., Michalak, M., Prywes, R., Okada, T., Yoshida, H., Mori, K., Kaufman, R.J. Genes Dev. (2002)
- ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. Ye, J., Rawson, R.B., Komuro, R., Chen, X., Davé, U.P., Prywes, R., Brown, M.S., Goldstein, J.L. Mol. Cell (2000)
- Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease. Ye, J., Davé, U.P., Grishin, N.V., Goldstein, J.L., Brown, M.S. Proc. Natl. Acad. Sci. U.S.A. (2000)
- Characterization of the yaeL gene product and its S2P-protease motifs in Escherichia coli. Kanehara, K., Akiyama, Y., Ito, K. Gene (2001)
- Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins. Zelenski, N.G., Rawson, R.B., Brown, M.S., Goldstein, J.L. J. Biol. Chem. (1999)
- Underglycosylation of ATF6 as a novel sensing mechanism for activation of the unfolded protein response. Hong, M., Luo, S., Baumeister, P., Huang, J.M., Gogia, R.K., Li, M., Lee, A.S. J. Biol. Chem. (2004)
- Characterization of allelic variation in the Babesia bovis merozoite surface antigen 1 (MSA-1) locus and identification of a cross-reactive inhibition-sensitive MSA-1 epitope. Suarez, C.E., Florin-Christensen, M., Hines, S.A., Palmer, G.H., Brown, W.C., McElwain, T.F. Infect. Immun. (2000)
- Site-2 protease regulated intramembrane proteolysis: sequence homologs suggest an ancient signaling cascade. Kinch, L.N., Ginalski, K., Grishin, N.V. Protein Sci. (2006)
- Differential stimulation of cholesterol and unsaturated fatty acid biosynthesis in cells expressing individual nuclear sterol regulatory element-binding proteins. Pai, J.T., Guryev, O., Brown, M.S., Goldstein, J.L. J. Biol. Chem. (1998)
- Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs. Rawson, R.B., Zelenski, N.G., Nijhawan, D., Ye, J., Sakai, J., Hasan, M.T., Chang, T.Y., Brown, M.S., Goldstein, J.L. Mol. Cell (1997)
- Improved survival of patients undergoing palliation of hypoplastic left heart syndrome: lessons learned from 115 consecutive patients. Tweddell, J.S., Hoffman, G.M., Mussatto, K.A., Fedderly, R.T., Berger, S., Jaquiss, R.D., Ghanayem, N.S., Frisbee, S.J., Litwin, S.B. Circulation (2002)
- Amyloid precursor protein processing in sterol regulatory element-binding protein site 2 protease-deficient Chinese hamster ovary cells. Ross, S.L., Martin, F., Simonet, L., Jacobsen, F., Deshpande, R., Vassar, R., Bennett, B., Luo, Y., Wooden, S., Hu, S., Citron, M., Burgess, T.L. J. Biol. Chem. (1998)
- Rapid evolution of a recently retroposed transcription factor YY2 in mammalian genomes. Luo, C., Lu, X., Stubbs, L., Kim, J. Genomics (2006)