EMDB/PDB/SASBDBから引用されている文献のデータベース

キーワード
構造解析手法	All X線回折 NMR 電子顕微鏡小角散乱中性子線回折線維回折粉末回折赤外分光 EPR FRET 理論モデルハイブリッド
著者・登録者
ジャーナル
IF	>30 >20 >10 >5 all

タイトル	Structural diversity of heat-sensing channel TRPV3 with Olmsted syndrome mutations.
ジャーナル・号・ページ	Nat Commun, Vol. 17, Issue 1, Year 2026
掲載日	2026年6月20日
著者	Jeffrey Khau / Rutambhara Purohit / Kirill D Nadezhdin / Irina A Talyzina / Alexander I Sobolevsky /
PubMed 要旨	Mutations in TRPV3, a temperature-sensitive ion channel critical for skin physiology, cause severe genodermatosis called Olmsted syndrome (OS). Here we integrate single-channel recordings and cryo-EM ...Mutations in TRPV3, a temperature-sensitive ion channel critical for skin physiology, cause severe genodermatosis called Olmsted syndrome (OS). Here we integrate single-channel recordings and cryo-EM to characterize five OS mutants. All exhibit reduced temperature sensitivity in the temperature range relevant to normal skin physiology and disrupt structural elements stabilizing non-conducting states, including vanilloid lipid coordination and S4-S5 linker-TRP helix contacts. Despite shared gain-of-function phenotype, the mutations cause different distributions of the TRPV3 closed, open, and inactivated states. One mutation expands the conformational ensemble with noncanonical two-fold-symmetrical states featuring dramatic domain swapping. Our findings highlight conserved TRP channel gating mechanisms and suggest that OS mutations alter TRPV3 function by triggering the conformational wave that mediates gating in wild-type channels. These insights establish a framework to decode genotype-structure-function relationships in TRP channelopathies and guide future therapeutic strategies.
リンク	Nat Commun / PubMed:42323291 / PubMed Central
手法	EM (単粒子)
解像度	2.49 - 4.01 Å
構造データ	71680 9pj5 EMDB-71680, PDB-9pj5: Closed-state structure of wild-type human TRPV3 purified in GDN detergent 手法: EM (単粒子) / 解像度: 2.76 Å 71681 9pj6 EMDB-71681, PDB-9pj6: Inactivated-state structure of wild-type human TRPV3 purified in GDN detergent 手法: EM (単粒子) / 解像度: 2.97 Å 77134 13lj EMDB-77134, PDB-13lj: Structure of human TRPV3-G568C Olmsted syndrome mutant in the closed state 手法: EM (単粒子) / 解像度: 2.86 Å 77135 13lk EMDB-77135, PDB-13lk: Structure of human TRPV3-G568C Olmsted syndrome mutant in the open state 手法: EM (単粒子) / 解像度: 3.18 Å 77136 13ll EMDB-77136, PDB-13ll: Structure of human TRPV3-Q580P Olmsted syndrome mutant in the closed state 手法: EM (単粒子) / 解像度: 2.96 Å 77137 13lm EMDB-77137, PDB-13lm: Structure of human TRPV3-Q580P Olmsted syndrome mutant in the open state 手法: EM (単粒子) / 解像度: 3.29 Å 77138 13ln EMDB-77138, PDB-13ln: Structure of human TRPV3-Q580P Olmsted syndrome mutant in the inactivated state 手法: EM (単粒子) / 解像度: 3.02 Å 77139 13lo EMDB-77139, PDB-13lo: Structure of human TRPV3-W692G Olmsted syndrome mutant in the open state 手法: EM (単粒子) / 解像度: 3.34 Å 77140 13lp EMDB-77140, PDB-13lp: Structure of human TRPV3-W692G Olmsted syndrome mutant in the inactivated state 手法: EM (単粒子) / 解像度: 3.02 Å 77141 13lq EMDB-77141, PDB-13lq: Structure of human TRPV3-G568D Olmsted syndrome mutant in the 4-fold symmetrical open state 手法: EM (単粒子) / 解像度: 4.01 Å 77142 13lr EMDB-77142, PDB-13lr: Structure of human TRPV3-G568D Olmsted syndrome mutant in the 4-fold symmetrical inactivated state 手法: EM (単粒子) / 解像度: 3.33 Å 77143 13ls EMDB-77143, PDB-13ls: Structure of human TRPV3-G568D Olmsted syndrome mutant in the 2-fold symmetrical closed state 手法: EM (単粒子) / 解像度: 3.02 Å 77144 13lt EMDB-77144, PDB-13lt: Structure of human TRPV3-G568D Olmsted syndrome mutant in the 2-fold symmetrical open state 手法: EM (単粒子) / 解像度: 3.25 Å 77145 13lu EMDB-77145, PDB-13lu: Structure of human TRPV3-W521S Olmsted syndrome mutant in the closed state 手法: EM (単粒子) / 解像度: 2.49 Å
化合物	ChemComp-POV: (2S)-3-(hexadecanoyloxy)-2-[(9Z)-octadec-9-enoyloxy]propyl 2-(trimethylammonio)ethyl phosphate / リン脂質YM ChemComp-NA: Unknown entry ChemComp-HOH*: WATER
由来	homo sapiens (ヒト) aequorea victoria (オワンクラゲ)
キーワード	MEMBRANE PROTEIN / TRPV3 / mutant / G568C / Olmsted syndrome / human / closed state / GDN / detergent / mutation / gain-of-function / open state / Q580P / inactivated state / W692G / G568D / C4 symmetry / C2 symmetry / W521S / closed / state / wild type