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. 2016 Dec 27;114(2):400–405. doi: 10.1073/pnas.1606387114

Fig. S1.

Fig. S1.

Functional classification of ATF6 mutants. (A) Reduced ATF6 monomers traffic from ER to Golgi in response to ER stress. S1P and S2P proteases cleave ATF6 in the Golgi apparatus to liberate the cytosolic bZIP transcriptional activator ATF6 fragment. Cleaved ATF6 migrates to nucleus to transcribe target genes. Class 1 ATF6 mutants D564G and Y567N show impaired ER-to-Golgi trafficking. G512Lfs*39 and L479Vfs*11 mutations are also proposed as class 1 mutations, because these mutations also occur in the luminal domain of ATF6. Class 2 ATF6 mutants V371Sfs*3 and R376* have fully intact ATF6 cytosolic domain and show constitutive transcriptional activator function. N366Hfs*12 is also proposed as a class 2 mutation because it contains the entire active ATF6 cytosolic domain. Class 3 ATF6 mutants do not have a functional bZIP domain and fail to bind and up-regulate ATF6 target genes. (B) List of class 1, 2, and 3 ATF6 mutants associated with achromatopsia. (C) Topography of ATF6 and the location of the disease-causing mutations identified in patients with achromatopsia.