Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.17.4.4 extracted from

  • Rost, S.; Fregin, A.; Ivaskevicius, V.; Conzelmann, E.; Hortnagel, K.; Pelz, H.J.; Lappegard, K.; Seifried, E.; Scharrer, I.; Tuddenham, E.G.; Müller, C.R.; Strom, T.M.; Oldenburg, J.
    Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2 (2004), Nature, 427, 537-541.
    View publication on PubMed
Search for more literature for 1.17.4.4

Cloned(Commentary)

Cloned (Comment) Organism
overexpression of wild-type and mutant enzymes in HEK293 cells Homo sapiens

Protein Variants

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

Inhibitors Comment Organism Structure
warfarin mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2 Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum transmembrane protein Homo sapiens 5783
-

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens Q9BQB6
-
-

Source Tissue

Source Tissue Comment Organism Textmining
kidney
-
 Homo sapiens
-
liver
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
VKOR
-
 Homo sapiens