Lysine mutations along TM 4 enable TMEM63A channel and scramblase activities.
(a)Top: TMEM63A is an ion channel gated by high threshold membrane tension. Bottom: the TM 4/6 interface of HsTMEM63A (PDB 8GRS) with key residues shown as yellow sticks using amino acid numbering corresponding to the mouse ortholog. (b) Representative images of TMEM16F KO HEK293T cells expressing eGFP-tagged TMEM63A WT, W472K, S475K, and A476K (center column). CF 594-conjugated AnV (right column) labelled PS exposing cells. BF denotes bright field images (left column). (c) Quantification of the percentage of cells with AnV labelling for TMEM63A WT (n=4), W472K (n=4), S475K (n =4), and A476K-transfected cells (n=4). Statistical comparisons were conducted with unpaired t-tests with Welch’s correction (**: p<0.01, ****: p<0.0001). (d) Representative current recordings and (e) normalized conductance-voltage (I-V) relationships of cell attached patches from TMEM16F KO HEK293T cells expressing either eGFP mock-transfected (n=7) or eGFP-tagged TMEM63A WT (n=7), W472K (n=7), S475K (n=5), or A476K (n=7). Currents represent the subtraction of voltage alone from currents elicited by the voltage and pressure protocols shown. Dotted line denotes zero current. Note that the mock control was normalized to the mean maximal current elicited from WT-transfected cells. (f) Quantification of half-maximal voltage at −80 mmHg for WT (122 mV), W472K (96 mV), S475K (92 mV), and A476K (97 mV). Error bars represent standard error of the mean (SEM) calculated from independent patches. Statistical comparison was conducted with unpaired t-tests with Welch’s correction (*: p<0.05, **: p<0.01, ***: p<0.001). (g) Lysine mutations along TM 4 in TMEM63A enable spontaneous phospholipid permeability.