Database of articles cited by EMDB/PDB/SASBDB data

Keywords
Structure methods	All X-ray diffraction NMR electron microscopy small angle scattering neutron diffraction fiber diffraction powder diffraction infrared spectroscopy EPR fluorescence transfer theoretical model Hybrid
Author
Journal
IF	>30 >20 >10 >5 all

Title	Structural diversity of heat-sensing channel TRPV3 with Olmsted syndrome mutations.
Journal, issue, pages	Nat Commun, Year 2026
Publish date	May 13, 2026 (structure data deposition date)
Authors	Jeffrey Khau / Rutambhara Purohit / Kirill D Nadezhdin / Irina A Talyzina / Alexander I Sobolevsky /
PubMed Abstract	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.
External links	Nat Commun / PubMed:42323291
Methods	EM (single particle)
Resolution	2.49 - 4.01 Å
Structure data	PDB-13lj: Structure of human TRPV3-G568C Olmsted syndrome mutant in the closed state Method: ELECTRON MICROSCOPY / Resolution: 2.86 Å PDB-13lk: Structure of human TRPV3-G568C Olmsted syndrome mutant in the open state Method: ELECTRON MICROSCOPY / Resolution: 3.18 Å PDB-13lm: Structure of human TRPV3-Q580P Olmsted syndrome mutant in the open state Method: ELECTRON MICROSCOPY / Resolution: 3.29 Å PDB-13ln: Structure of human TRPV3-Q580P Olmsted syndrome mutant in the inactivated state Method: ELECTRON MICROSCOPY / Resolution: 3.02 Å PDB-13lo: Structure of human TRPV3-W692G Olmsted syndrome mutant in the open state Method: ELECTRON MICROSCOPY / Resolution: 3.34 Å PDB-13lp: Structure of human TRPV3-W692G Olmsted syndrome mutant in the inactivated state Method: ELECTRON MICROSCOPY / Resolution: 3.02 Å PDB-13lq: Structure of human TRPV3-G568D Olmsted syndrome mutant in the 4-fold symmetrical open state Method: ELECTRON MICROSCOPY / Resolution: 4.01 Å PDB-13lr: Structure of human TRPV3-G568D Olmsted syndrome mutant in the 4-fold symmetrical inactivated state Method: ELECTRON MICROSCOPY / Resolution: 3.33 Å PDB-13ls: Structure of human TRPV3-G568D Olmsted syndrome mutant in the 2-fold symmetrical closed state Method: ELECTRON MICROSCOPY / Resolution: 3.02 Å PDB-13lt: Structure of human TRPV3-G568D Olmsted syndrome mutant in the 2-fold symmetrical open state Method: ELECTRON MICROSCOPY / Resolution: 3.25 Å PDB-13lu: Structure of human TRPV3-W521S Olmsted syndrome mutant in the closed state Method: ELECTRON MICROSCOPY / Resolution: 2.49 Å PDB-9pj5: Closed-state structure of wild-type human TRPV3 purified in GDN detergent Method: ELECTRON MICROSCOPY / Resolution: 2.76 Å PDB-9pj6: Inactivated-state structure of wild-type human TRPV3 purified in GDN detergent Method: ELECTRON MICROSCOPY / Resolution: 2.97 Å
Chemicals	ChemComp-POV: (2S)-3-(hexadecanoyloxy)-2-[(9Z)-octadec-9-enoyloxy]propyl 2-(trimethylammonio)ethyl phosphate / phospholipidYM ChemComp-NA: Unknown entry ChemComp-HOH*: WATER
Source	homo sapiens (human) aequorea victoria (jellyfish)
Keywords	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