› 6i4p

X-ray diffraction
1.6Å resolution

Crystal structure of the disease-causing G194C mutant of the human dihydrolipoamide dehydrogenase

Released:
DOI: 10.2210/pdb6i4p/pdb
PDB entry 6i4p coloured by chain, front view.
PDB entry 6i4p coloured by chain, side view.
PDB entry 6i4p coloured by chain, top view.
Source organism: Homo sapiens
Primary publication:
Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants.
Szabo E, Wilk P, Nagy B, Zambo Z, Bui D, Weichsel A, Arjunan P, Torocsik B, Hubert A, Furey W, Montfort WR, Jordan F, Weiss MS, Adam-Vizi V, Ambrus A
Hum Mol Genet 28 3339-3354 (2019)
PMID: 31334547

Function and Biology Details

Reaction catalysed: 
Protein N(6)-(dihydrolipoyl)lysine + NAD(+) = protein N(6)-(lipoyl)lysine + NADH
Biochemical function:
Biological process:
Cellular component:
Sequence domains:

Structure analysis Details

Assembly composition:
homo dimer (preferred)
Assembly name:
PDBe Complex ID:
PDB-CPX-140717 (preferred)
Entry contents:
1 distinct polypeptide molecule
Macromolecule:
Dihydrolipoyl dehydrogenase, mitochondrial Chains: A, B
Molecule details ›
Chains: A, B
Length: 496 amino acids
Theoretical weight: 52.68 KDa
Source organism: Homo sapiens
Expression system: Escherichia coli BL21(DE3)
UniProt:
  • Canonical: P09622 (Residues: 36-509; Coverage: 93%)
Gene names: DLD, GCSL, LAD, PHE3
Sequence domains:

Ligands and Environments


Cofactor: Ligand FAD 2 x FAD
2 bound ligands:
Ligand SO4 9 x SO4
Ligand BTB 2 x BTB
No modified residues

Experiments and Validation Details

Entry percentile scores
X-ray source: BESSY BEAMLINE 14.1
Spacegroup: P21212
Unit cell:
a: 119.487Å b: 169.423Å c: 61.865Å
α: 90° β: 90° γ: 90°
R-values:
R R work R free
0.188 0.187 0.212
Expression system: Escherichia coli BL21(DE3)

Quick links

Citations

4 review citations

Hydrogen-Deuterium Exchange Mass Spectrometry: A Novel Structural Biology Approach to Structure, Dynamics and Interactions of Proteins and Their Complexes.
Ozohanics et al. (2020)
3 more

3 mentions without citation

An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence.
Ambrus A. (2019)
2 more