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Literature summary for 1.14.11.18 extracted from

  • McDonough, M.A.; Kavanagh, K.L.; Butler, D.; Searls, T.; Oppermann, U.; Schofield, C.J.
    Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease (2005), J. Biol. Chem., 280, 41101-41110.
    View publication on PubMed

Activating Compound

Activating Compound Comment Organism Structure
2-hydroxyphytanoyl-CoA
-
Homo sapiens

Application

Application Comment Organism
medicine treatment of Refsum disease Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli Homo sapiens

Crystallization (Commentary)

Crystallization (Comment) Organism
hanging drop vapour diffusion method in 21% polyethylene glycol 3350, 0.3 M triammonium citrate, pH 7.1, at 18°C Homo sapiens

Protein Variants

Protein Variants Comment Organism
E197Q disruption of the 2-oxoglutarate binding pocket Homo sapiens
F275S places a polar side chain in a hydrophobic pocket and possibly interferes with the overall structure or impair protein folding Homo sapiens
G204S disruption of the 2-oxoglutarate binding pocket, uncouples 2-oxoglutarate and phytanoyl-CoA oxidation Homo sapiens
H259A mutation removes two of the hydrogen bonds and probably destabilizes the beta-turn, which in turn destabilizes the core double stranded beta-helix Homo sapiens
I199F disruption of the 2-oxoglutarate binding pocket Homo sapiens
N269H disruption of the 2-oxoglutarate binding pocket, uncouples 2-oxoglutarate and phytanoyl-CoA oxidation Homo sapiens
N83Y disruption of protein-protein interactions proposed to involve PAHX, such as that with sterol carrier protein-2, proposed to be responsible for solubilization and presentation of phytanoyl-CoA to PAHX Homo sapiens
R245Q disruption of protein-protein interactions proposed to involve PAHX, such as that with sterol carrier protein-2, proposed to be responsible for solubilization and presentation of phytanoyl-CoA to PAHX Homo sapiens
R275Q very low catalytic activity Homo sapiens
R275W very low catalytic activity Homo sapiens
W193R disruption of the 2-oxoglutarate binding pocket Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
peroxisome
-
Homo sapiens 5777
-

Metals/Ions

Metals/Ions Comment Organism Structure
Fe2+
-
Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
35440
-
calculated from amino acid sequence without N-terminal methionine Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens O14832
-
-

Purification (Commentary)

Purification (Comment) Organism
carboxymethyl-Sepharose cation exchange chromatography and Superdex S75 gel filtration Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
isovaleryl-CoA + 2-oxoglutarate + O2
-
Homo sapiens ?
-
?
phytanoyl-CoA + 2-oxoglutarate + O2
-
Homo sapiens 2-hydroxyphytanoyl-CoA + succinate + CO2
-
ir

Synonyms

Synonyms Comment Organism
PAHX
-
Homo sapiens
phytanoyl-CoA 2-hydroxylase
-
Homo sapiens