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This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
VKORC1 (Vitamin K Epoxide Reductase Complex Subunit 1) is a Protein Coding gene. Diseases associated with VKORC1 include Coumarin Resistance and Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2. Among its related pathways are Metabolism of fat-soluble vitamins and Metabolism. Gene Ontology (GO) annotations related to this gene include quinone binding and vitamin-K-epoxide reductase (warfarin-sensitive) activity. An important paralog of this gene is ENSG00000255439.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 22046132 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0047057 | vitamin-K-epoxide reductase (warfarin-sensitive) activity | IEA,IDA | 16270630 |
GO:0047058 | vitamin-K-epoxide reductase (warfarin-insensitive) activity | IEA | -- |
GO:0048038 | quinone binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA,IDA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IEA | -- |
SuperPathway | Contained pathways | ||
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1 | Metabolism |
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2 | Metabolism of fat-soluble vitamins | ||
3 | Ubiquinol biosynthesis | ||
4 | Warfarin Pathway, Pharmacodynamics | ||
5 | Metabolism of water-soluble vitamins and cofactors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007596 | blood coagulation | IBA,IMP | 16270630 |
GO:0010243 | response to organonitrogen compound | IEA | -- |
GO:0014070 | response to organic cyclic compound | IEA | -- |
GO:0017144 | drug metabolic process | IMP | 21127708 |
GO:0017187 | peptidyl-glutamic acid carboxylation | IMP | 20978134 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Acenocoumarol | Approved, Investigational | Pharma | Target, inhibitor | 44 | ||
Warfarin | Approved | Pharma | Target, inhibitor | 609 | ||
Phenprocoumon | Approved, Investigational | Pharma | Target, inhibitor | 37 | ||
Menadione | Approved | Nutra | Target, cofactor, inhibitor | 327 | ||
Dicumarol | Approved | Pharma | Target, inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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2,3-Butanediol |
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513-85-9 |
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2,3-Epoxymenaquinone |
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Glucosylceramide (d18:1/16:0) |
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Oxidized dithiothreitol |
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S-6-Hydroxywarfarin |
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ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d |
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SP1: | - | - | |||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||
SP5: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | VKORC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | VKORC1 30 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | VKORC1 30 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Gm21974 31 |
|
ManyToMany | |
Vkorc1 30 17 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Vkorc1 30 |
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Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
African clawed frog (Xenopus laevis) |
Amphibia | LOC398467 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | vkorc1 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Vkor 30 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
692018 | Conflicting Interpretations: Warfarin response; Vitamin K-dependent clotting factors, combined deficiency of, 2 | 31,093,399(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
791061 | Benign/Likely Benign: Vitamin K-dependent clotting factors, combined deficiency of, 2; not provided | 31,094,601(-) | G/A | SYNONYMOUS_VARIANT | |
884452 | Uncertain Significance: Vitamin K-dependent clotting factors, combined deficiency of, 2 | 31,094,613(-) | G/A | SYNONYMOUS_VARIANT | |
884453 | Uncertain Significance: Vitamin K-dependent clotting factors, combined deficiency of, 2 | 31,094,676(-) | C/A | SYNONYMOUS_VARIANT | |
884454 | Uncertain Significance: Vitamin K-dependent clotting factors, combined deficiency of, 2 | 31,094,731(-) | A/G | FIVE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
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coumarin resistance |
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vitamin k-dependent clotting factors, combined deficiency of, 2 |
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hereditary combined deficiency of vitamin k-dependent clotting factors |
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retinal vascular occlusion |
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atrial fibrillation |
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