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FLASH GENE
Symbol VKORC1 contributors: mct - updated : 07-04-2014
HGNC name vitamin K epoxide reductase complex, subunit 1
HGNC id 23663
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C-terminal endoplasmic membrane retention signal (Lys-Lys-X-X or Lys-X-Lys-X-X )
  • a transmembrane domain
  • HOMOLOGY
    interspecies ortholog to murine Vkorc1
    ortholog to rattus vkorc1
    intraspecies paralog to VKORC1L1
    Homologene
    FAMILY VKOR family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as a target of warfarin
  • essential role of VKORC1 in vitamin K-dependent gamma-glutamyl carboxylation
  • may play a role in osteoporosis
  • both VKORC1 and SERP1, might have a synergistic function in eliminating reactive oxygen species generated during the vitamin K 2,3-epoxide reductase (VKOR) redox process
  • relevant molecule for cardiovascular diseases, since it is the target of oral anticoagulant drugs and plays a role in soft tissue calcification
  • main genetic determinant of human response to oral anticoagulants of antivitamin K type (AVK)
  • in liver, quasi-exclusive participation of VKORC1 in the VKOR activity
  • exclusive involvement of VKORC1 in the liver
  • VKORC1L1 and VKORC1 might potentially have different physiological functions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism vitamin
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • VKORC1 interacting with SERP1, and both might have a synergistic function in eliminating reactive oxygen species generated during the VKOR redox process
  • MIR133A1 appears to have a direct regulatory effect on expression of VKORC1, and this regulation may have potential importance for anticoagulant therapy or aortic calcification
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) VKCFD2
    Susceptibility
  • to warfarin sensitivity
  • to systemic lupus erythematosus (SLE)
  • to coronary artery disease in the presence of coronary calcification
  • Variant & Polymorphism other
  • promoter polymorphism (-1639 G>A) presented in the homozygous form (genotype AA) was found in all warfarin-sensitive patients
  • genetic variants in VKORC1, which are involved in vitamin K reduction and associated with DVT, correlate with SLE development
  • rs2359612C allele is associated with increased risk of coronary artery disease in the presence of coronary calcification
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous Vkorc1-deficient mice developed normally until birth, but within 2-20 days after birth, the knockout mice died due to extensive, predominantly intracerebral haemorrhage
  • homozygous Vkorc1-/- mice die in 220 days after birth by extensive bleeding due to a total deficiency of the gamma-carboxylation of the clotting factors in liver