Cloned (Comment) | Organism |
---|---|
overexpression of wild-type and mutant enzymes in HEK293 cells | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L128R | VKOR activity is reduced to 5.2% of the activity of the wild-type enzyme | Homo sapiens |
additional information | VKORC1 contains missense mutations in the two heritable human diseases: combined deficiency of vitamin-K-dependent clotting factors type 2 (VKCFD2, Online Mendelian Inheritance in Man 607473) and resistance to coumarin-type anticoagulant drugs (warfarin resistance, WR, Online Mendelian Inheritance in man 122700) | Homo sapiens |
R58G | VKOR activity is reduced to 20.6% of the activity of the wild-type enzyme | Homo sapiens |
R98W | VKOR activity is reduced to 8.9% of the activity of the wild-tyoe enzyme | Homo sapiens |
V29L | VKOR activity is reduced to 96.6% of the activity of the wild-type enzyme.Above 0.02 mM warfarin the mutant enzyme retains higher VKOR activity than the wild-type enzyme | Homo sapiens |
V45A | VKOR activity is reduced to 23% of the activity of the wild-type enzyme | Homo sapiens |
Y139C | VKOR activity is reduced to 48% of the activity of the wild-type enzyme. Above 0.02 mM warfarin the mutant enzyme retains higher VKOR activity than the wild-type enzyme | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
warfarin | mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2 | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
endoplasmic reticulum | transmembrane protein | Homo sapiens | 5783 | - |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
vitamin K1 2,3-epoxide + dithiothreitol | Homo sapiens | VKORC1 contains missense mutations in the two heritable human diseases: combined deficiency of vitamin-K-dependent clotting factors type 2 (VKCFD2, Online Mendelian Inheritance in Man 607473) and resistance to coumarin-type anticoagulant drugs (warfarin resistance, WR, Online Mendelian Inheritance in man 122700) | vitamin K1 + oxidized dithiothreitol | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9BQB6 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
kidney | - |
Homo sapiens | - |
liver | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
vitamin K1 2,3-epoxide + dithiothreitol | - |
Homo sapiens | vitamin K1 + oxidized dithiothreitol | - |
? | |
vitamin K1 2,3-epoxide + dithiothreitol | VKORC1 contains missense mutations in the two heritable human diseases: combined deficiency of vitamin-K-dependent clotting factors type 2 (VKCFD2, Online Mendelian Inheritance in Man 607473) and resistance to coumarin-type anticoagulant drugs (warfarin resistance, WR, Online Mendelian Inheritance in man 122700) | Homo sapiens | vitamin K1 + oxidized dithiothreitol | - |
? |
Synonyms | Comment | Organism |
---|---|---|
VKOR | - |
Homo sapiens |