LMPD Database

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LMP003612

UniProt Annotations

Entry Information
Gene Namevitamin K epoxide reductase complex, subunit 1
Protein EntryVKOR1_MOUSE
UniProt IDQ9CRC0
SpeciesMouse
Comments
Comment typeDescription
Catalytic Activity2-methyl-3-phytyl-1,4-naphthoquinone + oxidized dithiothreitol = 2,3-epoxy-2,3-dihydro-2-methyl-3-phytyl- 1,4-naphthoquinone + 1,4-dithiothreitol.
Disruption PhenotypeMice are born at the expected Mendelian rate and appear normal, but die between one and twenty days after birth, due to severe bleeeding. In about 75% of the cases, subdural bleeding is observed, in addition to intracerebral and intramuscular bleeding. Daily oral administration of vitamin K to the mutant mice leads to normal survival, but the mice die within seven days after the cessation of vitamin K administration. Besides, both homozygous and heterozygous mutant mice display defects in bone development with reduced length of the calcified part of the long bones in front and hind limbs. {ECO:0000269|PubMed:19492146}.
DomainThe number of transmembrane domains and the membrane topology are controversial; supporting evidence is available both for models with three transmembrane domains and four transmembrane domains. {ECO:0000250}.
Enzyme RegulationInhibited by warfarin (coumadin). {ECO:0000269|PubMed:15879509}.
FunctionInvolved in vitamin K metabolism. Catalytic subunit of the vitamin K epoxide reductase (VKOR) complex which reduces inactive vitamin K 2,3-epoxide to active vitamin K. Vitamin K is required for the gamma-carboxylation of various proteins, including clotting factors, and is required for normal blood coagulation, but also for normal bone development. {ECO:0000269|PubMed:15879509, ECO:0000269|PubMed:19492146}.
MiscellaneousThe location of two cysteine active-site residues within a proposed transmembrane is consistent both with the known hydrophobic environment of the thiol redox site of the enzyme and with the lipophilicity of vitamin K and warfarin (coumadin).
SimilarityBelongs to the VKOR family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
Tissue SpecificityDetected in liver. {ECO:0000269|PubMed:19492146}.