Literature summary 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.

Activating Compound

EC Number	Activating Compound	Comment	Organism	Structure
1.14.11.18	2-hydroxyphytanoyl-CoA	-	Homo sapiens

Application

EC Number	Application	Comment	Organism
1.14.11.18	medicine	treatment of Refsum disease	Homo sapiens

Cloned(Commentary)

EC Number	Cloned (Comment)	Organism
1.14.11.18	expressed in Escherichia coli	Homo sapiens

Crystallization (Commentary)

EC Number	Crystallization (Comment)	Organism
1.14.11.18	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

EC Number	Protein Variants	Comment	Organism
1.14.11.18	E197Q	disruption of the 2-oxoglutarate binding pocket	Homo sapiens
1.14.11.18	F275S	places a polar side chain in a hydrophobic pocket and possibly interferes with the overall structure or impair protein folding	Homo sapiens
1.14.11.18	G204S	disruption of the 2-oxoglutarate binding pocket, uncouples 2-oxoglutarate and phytanoyl-CoA oxidation	Homo sapiens
1.14.11.18	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
1.14.11.18	I199F	disruption of the 2-oxoglutarate binding pocket	Homo sapiens
1.14.11.18	N269H	disruption of the 2-oxoglutarate binding pocket, uncouples 2-oxoglutarate and phytanoyl-CoA oxidation	Homo sapiens
1.14.11.18	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
1.14.11.18	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
1.14.11.18	R275Q	very low catalytic activity	Homo sapiens
1.14.11.18	R275W	very low catalytic activity	Homo sapiens
1.14.11.18	W193R	disruption of the 2-oxoglutarate binding pocket	Homo sapiens

Localization

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

Metals/Ions

EC Number	Metals/Ions	Comment	Organism	Structure
1.14.11.18	Fe2+	-	Homo sapiens

Molecular Weight [Da]

EC Number	Molecular Weight [Da]	Molecular Weight Maximum [Da]	Comment	Organism
1.14.11.18	35440	-	calculated from amino acid sequence without N-terminal methionine	Homo sapiens

Organism

EC Number	Organism	UniProt	Comment	Textmining
1.14.11.18	Homo sapiens	O14832	-	-

Purification (Commentary)

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

Substrates and Products (Substrate)

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

Synonyms

EC Number	Synonyms	Comment	Organism
1.14.11.18	PAHX	-	Homo sapiens
1.14.11.18	phytanoyl-CoA 2-hydroxylase	-	Homo sapiens

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Release 2023.1 (January 2023)