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Aliases for VKORC1 Gene

Aliases for VKORC1 Gene

  • Vitamin K Epoxide Reductase Complex, Subunit 1 2 3
  • VKOR 3 4 6
  • Vitamin K Dependent Clotting Factors Deficiency 2 2 3
  • Vitamin K1 2,3-Epoxide Reductase Subunit 1 3 4
  • VKCFD2 3 6
  • Vitamin K1 Epoxide Reductase (Warfarin-Sensitive) 3
  • Vitamin K Epoxide Reductase Complex Subunit 1 3
  • Phylloquinone Epoxide Reductase 3
  • IMAGE3455200 3
  • EC 1.17.4.4 4
  • EC 1.1.4.1 63
  • FLJ00289 6
  • EDTP308 3
  • MST134 3
  • MST576 3

External Ids for VKORC1 Gene

Previous HGNC Symbols for VKORC1 Gene

  • VKCFD2

Previous GeneCards Identifiers for VKORC1 Gene

  • GC16M031138
  • GC16M031009
  • GC16M028663

Summaries for VKORC1 Gene

Entrez Gene Summary for VKORC1 Gene

  • Vitamin K is essential for blood clotting but must be enzymatically activated. This enzymatically activated form of vitamin K is a reduced form required for the carboxylation of glutamic acid residues in some blood-clotting proteins. The product of this gene encodes the enzyme that is responsible for reducing vitamin K 2,3-epoxide to the enzymatically activated form. Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and it is the product of this gene that is sensitive to warfarin. In humans, mutations in this gene can be associated with deficiencies in vitamin-K-dependent clotting factors and, in humans and rats, with warfarin resistance. Two pseudogenes have been identified on chromosome 1 and the X chromosome. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for VKORC1 Gene

VKORC1 (Vitamin K Epoxide Reductase Complex, Subunit 1) is a Protein Coding gene. Diseases associated with VKORC1 include vitamin k-dependent clotting factors, combined deficiency of, 2 and coumarin resistance. Among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include vitamin-K-epoxide reductase (warfarin-sensitive) activity. An important paralog of this gene is VKORC1L1.

UniProtKB/Swiss-Prot for VKORC1 Gene

  • Involved 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.

Gene Wiki entry for VKORC1 Gene

PharmGKB "VIP" Summary for VKORC1 Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for VKORC1 Gene

Genomics for VKORC1 Gene

Regulatory Elements for VKORC1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for VKORC1 Gene

Start:
31,090,842 bp from pter
End:
31,095,980 bp from pter
Size:
5,139 bases
Orientation:
Minus strand

Genomic View for VKORC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VKORC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VKORC1 Gene

Proteins for VKORC1 Gene

  • Protein details for VKORC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQB6-VKOR1_HUMAN
    Recommended name:
    Vitamin K epoxide reductase complex subunit 1
    Protein Accession:
    Q9BQB6
    Secondary Accessions:
    • A6NIQ6
    • B2R4Z6
    • Q6UX90
    • Q7Z2R4

    Protein attributes for VKORC1 Gene

    Size:
    163 amino acids
    Molecular mass:
    18235 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The 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)
    SequenceCaution:
    • Sequence=AAQ88821.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for VKORC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VKORC1 Gene

Proteomics data for VKORC1 Gene at MOPED

Selected DME Specific Peptides for VKORC1 Gene

Post-translational modifications for VKORC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VKORC1 Gene

Antibody Products

Domains for VKORC1 Gene

Protein Domains for VKORC1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BQB6

UniProtKB/Swiss-Prot:

VKOR1_HUMAN :
  • Q9BQB6
Domain:
  • The number of transmembrane domains and the membrane topology are controversial; supporting evidence is available both for models with three transmembrane domains (PubMed:15716279 and PubMed:22923610) and four transmembrane domains (PubMed:20696932 and PubMed:20978134). According to PubMed:15716279 and PubMed:22923610 the N-terminus of the protein is in the endoplasmic reticulum lumen, while the C-terminus is in the cytosol, which is in favor of three transmembrane domains. According to PubMed:20696932, both N-terminus and C-terminus are in the cytosol, indicating the presence of four transmembrane domains. Besides, the 3D-structure of a bacterial ortholog shows four transmembrane domains. Moreover, proteins that reside in the endoplasmic reticulum lumen can catalyze the reduction of the active site cysteines, possibly via Cys-43 and Cys-51 (PubMed:20696932 and PubMed:20978134), but less efficiently than the synthetic compound dithiothreitol (in vitro). Location of Cys-43 and Cys-51 in the endoplasmic reticulum lumen would be in agreement with four transmembrane domains. Again, these data are controversial, and papers do not agree on the effects of mutating Cys-43 and Cys-51, probably because of differences in the assay systems
Family:
  • Belongs to the VKOR family.
genes like me logo Genes that share domains with VKORC1: view

No data available for Gene Families for VKORC1 Gene

Function for VKORC1 Gene

Molecular function for VKORC1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Phylloquinone + oxidized dithiothreitol + H(2)O = 2,3-epoxy-2-methyl-3- phytyl-2,3-dihydro-1,4-naphthoquinone + 1,4-dithiothreitol.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by warfarin (coumadin).
UniProtKB/Swiss-Prot Function:
Involved 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.

Enzyme Numbers (IUBMB) for VKORC1 Gene

Gene Ontology (GO) - Molecular Function for VKORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0047057 vitamin-K-epoxide reductase (warfarin-sensitive) activity IDA 16270630
GO:0048038 quinone binding IEA --
genes like me logo Genes that share ontologies with VKORC1: view

Phenotypes for VKORC1 Gene

MGI mutant phenotypes for VKORC1:
inferred from 2 alleles
GenomeRNAi human phenotypes for VKORC1:
genes like me logo Genes that share phenotypes with VKORC1: view

Animal Model Products

miRNA for VKORC1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for VKORC1 Gene

Localization for VKORC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VKORC1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VKORC1 Gene COMPARTMENTS Subcellular localization image for VKORC1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
plasma membrane 2
chloroplast 1
cytosol 1

Gene Ontology (GO) - Cellular Components for VKORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with VKORC1: view

Pathways for VKORC1 Gene

genes like me logo Genes that share pathways with VKORC1: view

Interacting Proteins for VKORC1 Gene

Gene Ontology (GO) - Biological Process for VKORC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation IMP 16270630
GO:0017144 drug metabolic process IMP 21127708
GO:0017187 peptidyl-glutamic acid carboxylation TAS --
GO:0042373 vitamin K metabolic process IDA 16270630
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with VKORC1: view

Compounds for VKORC1 Gene

(8) HMDB Compounds for VKORC1 Gene

Compound Synonyms Cas Number PubMed IDs
1,4-Dithiothreitol
Not Available
2,3-Butanediol
  • 2,3-Butandiol
513-85-9
Glucosylceramide (d18:1/16:0)
  • 1-O-b-D-glucopyranosyl-Ceramide
85305-87-9
Menadione
  • Vitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene
58-27-5
Vitamin K1
  • 2',3'-trans-Vitamin K1
12001-79-5

(6) Drugbank Compounds for VKORC1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Acenocoumarol
  • Acenocoumarin
152-72-7 target inhibitor
Dicumarol
  • Bis-Hydroxycoumarin
66-76-2 target inhibitor
Menadione
  • 2-Methyl-1,4-Naphthalenedione
58-27-5 target cofactor
Phenindione
83-12-5 target inhibitor
Phenprocoumon
  • Fenprocumone [DCIT]
435-97-2 target inhibitor

(14) Novoseek inferred chemical compound relationships for VKORC1 Gene

Compound -log(P) Hits PubMed IDs
vitamin k epoxide 99.3 118
vitamin k hydroquinone 93.3 7
warfarin 92.4 242
acenocoumarol 87.5 21
coumarin 78.4 18

(4) PharmGKB related drug/compound annotations for VKORC1 Gene

Drug/compound Annotation
acenocoumarol CA
fluindione CA
phenprocoumon CA
warfarin CA
genes like me logo Genes that share compounds with VKORC1: view

Transcripts for VKORC1 Gene

Unigene Clusters for VKORC1 Gene

Vitamin K epoxide reductase complex, subunit 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for VKORC1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for VKORC1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d
SP1: - -
SP2: - - -
SP3: - -
SP4: - - - -
SP5: -

Relevant External Links for VKORC1 Gene

GeneLoc Exon Structure for
VKORC1
ECgene alternative splicing isoforms for
VKORC1

Expression for VKORC1 Gene

mRNA expression in normal human tissues for VKORC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VKORC1 Gene

This gene is overexpressed in Liver (4.3).

Protein differential expression in normal tissues for VKORC1 Gene

This gene is overexpressed in Pancreas (10.5) and Islet of Langerhans (10.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for VKORC1 Gene

SOURCE GeneReport for Unigene cluster for VKORC1 Gene Hs.324844

mRNA Expression by UniProt/SwissProt for VKORC1 Gene

Q9BQB6-VKOR1_HUMAN
Tissue specificity: Expressed at highest levels in fetal and adult liver, followed by fetal heart, kidney, and lung, adult heart, and pancreas.
genes like me logo Genes that share expressions with VKORC1: view

Expression partners for VKORC1 Gene

In Situ Assay Products

Orthologs for VKORC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for VKORC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia VKORC1 35
  • 87.73 (n)
  • 90.18 (a)
VKORC1 36
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia VKORC1 35
  • 87.93 (n)
  • 90.8 (a)
VKORC1 36
  • 91 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Vkorc1 35
  • 83.02 (n)
  • 85.71 (a)
Vkorc1 16
Gm21974 36
  • 85 (a)
ManyToMany
Vkorc1 36
  • 85 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia VKORC1 35
  • 99.59 (n)
  • 100 (a)
VKORC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vkorc1 35
  • 83.96 (n)
  • 84.37 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 52 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 52 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia LOC398467 35
zebrafish
(Danio rerio)
Actinopterygii vkorc1 35
  • 56.04 (n)
  • 53.75 (a)
vkorc1 36
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Vkor 35
  • 47.49 (n)
  • 39.04 (a)
Vkor 36
  • 37 (a)
OneToMany
Species with no ortholog for VKORC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for VKORC1 Gene

ENSEMBL:
Gene Tree for VKORC1 (if available)
TreeFam:
Gene Tree for VKORC1 (if available)

Paralogs for VKORC1 Gene

Paralogs for VKORC1 Gene

Selected SIMAP similar genes for VKORC1 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for VKORC1 Gene

genes like me logo Genes that share paralogs with VKORC1: view

Variants for VKORC1 Gene

Sequence variations from dbSNP and Humsavar for VKORC1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs7294 -- 31,091,000(-) TACCC(A/G)CACAT utr-variant-3-prime
rs1045843 -- 31,091,029(-) GGCTT(C/T)TAGAT utr-variant-3-prime
rs1046030 -- 31,090,882(-) AGGTT(C/T)TGAGC utr-variant-3-prime
rs2359612 -- 31,092,475(+) GGACC(A/G)TGGTG intron-variant
rs2884737 -- 31,094,233(+) CCTTC(A/C)CCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VKORC1 Gene

Variant ID Type Subtype PubMed ID
nsv905729 CNV Loss 21882294
dgv2670n71 CNV Loss 21882294
nsv457483 CNV Loss 19166990
nsv833193 CNV Gain+Loss 17160897
dgv2672n71 CNV Loss 21882294
esv999616 CNV Gain 20482838

Relevant External Links for VKORC1 Gene

HapMap Linkage Disequilibrium report
VKORC1
Human Gene Mutation Database (HGMD)
VKORC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VKORC1 Gene

Disorders for VKORC1 Gene

(2) OMIM Diseases for VKORC1 Gene (608547)

UniProtKB/Swiss-Prot

VKOR1_HUMAN
  • Combined deficiency of vitamin K-dependent clotting factors 2 (VKCFD2) [MIM:607473]: VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. {ECO:0000269 PubMed:14765194}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Coumarin resistance (CMRES) [MIM:122700]: A condition characterized by partial or complete resistance to warfarin or other 4-hydroxycoumarin derivatives. These drugs are used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. {ECO:0000269 PubMed:14765194, ECO:0000269 PubMed:20946155}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for VKORC1 Gene

(8) Novoseek inferred disease relationships for VKORC1 Gene

Disease -log(P) Hits PubMed IDs
warfarin resistance 92.6 13
coagulation factor deficiency 78.6 4
bleeding 53.3 16
stroke 16.7 14
aortic dissection 9.05 4

Relevant External Links for VKORC1

Genetic Association Database (GAD)
VKORC1
Human Genome Epidemiology (HuGE) Navigator
VKORC1
genes like me logo Genes that share disorders with VKORC1: view

No data available for Genatlas for VKORC1 Gene

Publications for VKORC1 Gene

  1. Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genotypes as determinants of acenocoumarol sensitivity. (PMID: 15790782) Bodin L. … Loriot M.A. (Blood 2005) 3 23 25 48
  2. A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk. (PMID: 16201835) Reitsma P.H. … BA1ller H.R. (PLoS Med. 2005) 3 23 25 48
  3. The c.-1639G > A polymorphism of the VKORC1 gene is a major determinant of the response to acenocoumarol in anticoagulated patients. (PMID: 16611310) Montes R. … Hermida J. (Br. J. Haematol. 2006) 3 23 25 48
  4. Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. (PMID: 14765194) Rost S. … Oldenburg J. (Nature 2004) 3 4 23
  5. Identification of the gene for vitamin K epoxide reductase. (PMID: 14765195) Li T. … Stafford D.W. (Nature 2004) 3 4 23

Products for VKORC1 Gene

Sources for VKORC1 Gene

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