ABCMdb

ABCC7 p.Ser1347Gly

None has been submitted yet.

Publications

PMID: 19332621 [PubMed] Tsai MF et al: "State-dependent modulation of CFTR gating by pyrophosphate."

No. Sentence Comment

35 Electrophysiological recordings Before inside-out patch clamp recordings, glass chips containing CHO cells transfected with various CFTR constructs, W401G, Y1219G, S1347G, E1371S, and WT-CFTR, were transferred to a continuously perfused chamber located on the stage of an inverted microscope (Olympus). Login to comment
105 Online supplemental material Fig. S1 shows that S1347G-CFTR has a weaker response to MgPPi than WT. Login to comment
246 Interestingly, we also found that S1347G, a mutation at NBD2 signature sequence, which presumably forms the ATP-binding pocket with NBD1`s Walker A domain upon NBD dimer formation, greatly attenuates the stability of the C2 state, and this reduced stability can also be partly reversed by P-ATP (Fig. S1). Login to comment
440 Supporting this hypothesis, we demonstrated that the C2 state dissipates much faster when residues at either NBD1 (W401G; Fig. 7 B) or the signature sequence of NBD2 were mutated (S1347G; Fig. S1). Login to comment

PMID: 20406820 [PubMed] Miki H et al: "Potentiation of disease-associated cystic fibrosis transmembrane conductance regulator mutants by hydrolyzable ATP analogs."

No. Sentence Comment

8 We show that P-dATP binds to ABP1 to potentiate the activity of G551D, and mutations in both sides of ABP1 (W401G and S1347G) decrease its potentiation effect, suggesting that the action of P-dATP takes place at the interface of both NBDs. Login to comment
147 Mutation of the serine at position 1347 to glycine will likely diminish the interaction of the P-dATP molecule with the signature sequence in NBD2. Login to comment
148 Fig. 4D shows a representative trace for the mutant G551D/S1347G. Login to comment
150 In fact the mutation S1347G in NBD2 decreases the potentiation effect of P-dATP to a similar extent as the W401G mutation in NBD1 (Fig. 4C). Login to comment
163 Representative current traces of G551D/Y1219G (A), W401G/G551D (B), and G551D/S1347G (D) in the presence of 10 ␮M P-dATP. Login to comment
164 C, P-dATP dose-response relationships for G551D (red, F), W401G/G551D (blue, E), G551D/Y1219G (green, Œ), and G551D/S1347G (black, f). Login to comment
169 F, comparison between the -fold increase in the current for G551D (red), W401G/G551D (blue), and G551D/S1347G (black) channels in the presence of saturating concentrations of dATP, P-ATP, and P-dATP. Login to comment

PMID: 20421370 [PubMed] Tsai MF et al: "Stable ATP binding mediated by a partial NBD dimer of the CFTR chloride channel."

No. Sentence Comment

117 Indeed, single S1347G channels, like W401G-CFTR (Fig. 3 A), opened into long bursts without a delay after changing the ligand from ATP to PATP (red trace in Fig. 4 B; channel kinetics summarized in Fig. 4 C), suggesting that the S1347G mutation in NBD2 dramatically shortens the dwell time of ATP in NBD1. Login to comment
123 As in the case for mutations at W401 (Fig. 3 E), more drastic mutations at S1347, e.g., S1347V and S1347G, shorten this time constant to a greater extent than the more conservative time. Login to comment
152 Consistent with this idea, for the ABC protein TAP2 whose corresponding residue of H1348 is Figure 4. Effects of the S1347G mutation on ligand exchange. Login to comment
158 (B) A representative single S1347G-CFTR channel trace from seven similar recordings. Login to comment
160 (D) Macroscopic currents from S1347G channels. Login to comment
189 The current rising phase Figure 7. Changes of WT-CFTR and S1347G-CFTR currents upon 8-N3-ATP/PATP exchange. Login to comment
191 (B) The second-phase current increase seen in A was essentially abolished by the S1347G mutation. Login to comment
204 Because most channels will stay in the open state when exposed to ATP and MgPPi, the subsequent solution change to PATP plus MgPPi will allow us to test whether ligand exchange in NBD1 occurs from the open state. If ATP/PATP exchange does occur in the open state (Fig. 10 B), PATP will further prolong the lock-open time because it is known that the lock-open state with MgPPi bound in NBD2 and PATP in NBD1 is more stable demonstrated biochemically (Aleksandrov et al., 2008), the trapping of 8-N3-ATP in the current study is also dependent on the tail of NBD2 because the S1347G mutation essentially abolished the second phase of current increase elicited by PATP upon switching the ligand from 8-N3-ATP to PATP (Fig. 7 B). Login to comment

PMID: 20861014 [PubMed] Tsai MF et al: "Optimization of the degenerated interfacial ATP binding site improves the function of disease-related mutant cystic fibrosis transmembrane conductance regulator (CFTR) channels."

No. Sentence Comment

120 Interestingly, we found that non-conservative mutations L1346Q and S1347G (Fig. 3A) and G1349I greatly reduced the nucleotide-dependent activation of W401F/G551D channels. Login to comment
121 For example, ATP and PATP, which increased the basal activity of W401F/G551D-CFTR by ϳ12-fold (Fig. 3D, blue dashed line) and ϳ30-fold (green dashed line), respectively, led to only ϳ2.5-and ϳ6-fold current increases when the S1347G mutation was present (Fig. 3D). Login to comment
139 A, the S1347G mutation diminished the response of W401F/G551D channels to ATP or PATP. B, incorporating the H1348G mutation into G551D-CFTR conferred responsiveness to ATP. Login to comment
189 These mutations include W401G,W401I (Fig. 1, B-D), which eliminate a ring-ring stacking interaction, S1347G (supplemental Fig. S6), which may break a hydrogen bond between ATP and the NBD2 signature motif, and G1349I (supplemental Fig. S6), whose side chain likely protrudes into site 1 and causes a steric clash with ATP (22-24). Login to comment

PMID: 25825169 [PubMed] Chaves LA et al: "Cysteine accessibility probes timing and extent of NBD separation along the dimer interface in gating CFTR channels."

No. Sentence Comment

328 Even in CFTR channels, the nonconservative mutation S1347G in the NBD2 signature sequence diminished open burst duration, and open probability, by only about one third (Tsai et al., 2010). Login to comment