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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
Corresponding disease
VKCFD2 vitamin K-dependent clotting factors, combined deficiency 2
Location 16p11.2      Physical location : 31.102.175 - 31.106.276
Synonym name vitamin K dependent clotting factors deficiency 2
Synonym symbol(s) VKOR, MST134, MST576, UNQ308, VKCFD2, MGC2694, FLJ00289
EC.number 1.1.4.1
DNA
TYPE functioning gene
STRUCTURE 4.10 kb     3 Exon(s)
regulatory sequence Promoter
text structure promoter polymorphism (-1639 G>A) presented in the homozygous form (genotype AA) was found in all warfarin-sensitive patients, and associated with inter-individual and inter-ethnic differences
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1042 18 163 - 2005 15947090
2 - 907 - 92 - 2005 15947090
has a distinct C-terminus
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   predominantly Rattus norvegicus
Nervousbrain   lowly Rattus norvegicus
Reproductivemale systemtestis  lowly Rattus norvegicus
Respiratorylung   highly Rattus norvegicus
Urinarykidney   moderately Rattus norvegicus
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text pancreas, liver, heart, kidney, lung
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