Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.

Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B, Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van Tilbeurgh H, Mollet G, Nat Commun 10(1):3967 (2019) Europe PMC

SASDFK8 – GON7, the fifth subunit of human KEOPS

EKC/KEOPS complex subunit GON7
MWI(0) 15 kDa
MWexpected 13 kDa
VPorod 46 nm3
log I(s) 1.97×10-2 1.97×10-3 1.97×10-4 1.97×10-5
EKC/KEOPS complex subunit GON7 small angle scattering data  s, nm-1
ln I(s)
EKC/KEOPS complex subunit GON7 Guinier plot ln 1.97×10-2 Rg: 3.1 nm 0 (3.1 nm)-2 s2
EKC/KEOPS complex subunit GON7 Kratky plot 1.104 0 3 sRg
EKC/KEOPS complex subunit GON7 pair distance distribution function Rg: 3.3 nm 0 Dmax: 12.5 nm

Data validation

There are no models related to this curve.

Synchrotron SAXS data from solutions of GON7 in 20 mM MES, 200 mM NaCl, 5 mM β-mercaptoethanol, pH 6.5 were collected on the SWING beam line at SOLEIL (Saint-Aubin, France) using a AVIEX PCCD170170 detector at a sample-detector distance of 1.8 m and at a wavelength of λ = 0.1 nm (I(s) vs s, where s = 4πsinθ/λ, and 2θ is the scattering angle). In-line size-exclusion chromatography (SEC) SAS was employed. The SEC parameters were as follows: A 65.00 μl sample at 6.7 mg/ml was injected at a 0.30 ml/min flow rate onto a Agilent Bio SEC-3, 300 Å column at 15°C. 255 successive 1 second frames were collected. The data were normalized to the intensity of the transmitted beam and radially averaged; the scattering of the solvent-blank was subtracted.

The scattered intensities were displayed on an absolute scale (cm-1) using the scattering of water. SAXS data were normalized to the intensity of the incident beam, averaged and background subtracted using the program US-SOMO. Frames were examined individually and 30 identical frames were averaged and further processed. The corresponding SEC-elution concentration was approximately 1.5 mg/mL.

Tags: idp
EKC/KEOPS complex subunit GON7 (GON7)
Mol. type   Protein
Organism   Homo sapiens
Olig. state   Monomer
Mon. MW   12.6 kDa
UniProt   Q9BXV9 (2-100)
Sequence   FASTA