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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

VKORC1 Gene

protein-coding   GIFtS: 64
GCID: GC16M031105

Vitamin K Epoxide Reductase Complex, Subunit 1

(Previous name: vitamin K dependent clotting factors deficiency 2)
(Previous symbol: VKCFD2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Vitamin K Epoxide Reductase Complex, Subunit 11 2     IMAGE34552002
VKCFD21 2 5     MST1342
VKOR2 3 5     MST5762
Vitamin K Dependent Clotting Factors Deficiency 21 2     Phylloquinone Epoxide Reductase2
Vitamin K1 2,3-Epoxide Reductase Subunit 12 3     Vitamin K Epoxide Reductase Complex Subunit 12
EC 1.1.4.13 8     Vitamin K1 Epoxide Reductase (Warfarin-Sensitive)2
EDTP3082     FLJ002895

External Ids:    HGNC: 236631   Entrez Gene: 790012   Ensembl: ENSG000001673977   OMIM: 6085475   UniProtKB: Q9BQB63   

Export aliases for VKORC1 gene to outside databases

Previous GC identifers: GC16M031138 GC16M031009 GC16M028663


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 warfarin sensitivity, and warfarin resistance, and among its related super-pathways are Removal of aminoterminal propeptides from gamma-carboxylated proteins and Post-translational protein modification. GO annotations related to this gene include vitamin-K-epoxide reductase (warfarin-sensitive) activity. An important paralog of this gene is ENSG00000255439.

UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6
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

Gene Wiki entry for VKORC1 Gene

PharmGKB "VIP" summary for VKORC1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the VKORC1 gene promoter:
         SRF   Pax-5   SRF (504 AA)   Brachyury   E47   POU2F1   COMP1   POU2F1a   SEF-1 (1)   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): VKORC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for VKORC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat VKORC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

VKORC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VKORC1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M031105:  view genomic region     (about GC identifiers)

Start:
31,102,163 bp from pter      End:
31,107,301 bp from pter
Size:
5,139 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6 (See protein sequence)
Recommended Name: Vitamin K epoxide reductase complex subunit 1  
Size: 163 amino acids; 18235 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
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
Sequence caution: Sequence=AAQ88821.1; Type=Erroneous initiation;
Secondary accessions: A6NIQ6 B2R4Z6 Q6UX90 Q7Z2R4
Alternative splicing: 3 isoforms:  Q9BQB6-1   Q9BQB6-2   Q9BQB6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VKORC1: NX_Q9BQB6

Explore proteomics data for VKORC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BQB6

  • 3 DME Specific Peptides for VKORC1 (Q9BQB6)
     LNQSNSIFGC  YLAWILFFVLYDFCIVCITTYAIN  YRALCDVGTAISCSRVFSSRWGRGFGLVEH 

    VKORC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    VKORC1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_076869.1  NP_996560.1  

    ENSEMBL proteins: 
     ENSP00000300851   ENSP00000326135   ENSP00000346969   ENSP00000378426   ENSP00000437064  
     ENSP00000378422   ENSP00000417662   ENSP00000458994  
    Reactome Protein details: Q9BQB6
    Human Recombinant Protein Products for VKORC1: 
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    Cloud-Clone Corp. Proteins for VKORC1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    VKORC1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR012932 VKOR

    Graphical View of Domain Structure for InterPro Entry Q9BQB6

    ProtoNet protein and cluster: Q9BQB6

    1 Blocks protein domain: IPB012932 Vitamin K epoxide reductase

    UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6
    Similarity: Belongs to the VKOR family


    VKORC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VKOR1_HUMAN, Q9BQB6
    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
    Catalytic activity: 2-methyl-3-phytyl-1,4-naphthoquinone + oxidized dithiothreitol =
    2,3-epoxy-2,3-dihydro-2-methyl-3-phytyl-1,4-naphthoquinone + 1,4-dithiothreitol

         Enzyme Number (IUBMB): EC 1.1.4.11 2

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0047057vitamin-K-epoxide reductase (warfarin-sensitive) activity IEA--
         
    VKORC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for VKORC1:
     Increased G1 DNA content 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Vkorc1):
     homeostasis/metabolism 

    VKORC1 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VKORC1 
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    hsa-miR-137 hsa-miR-133a hsa-miR-330-3p hsa-miR-133b
    SwitchGear 3'UTR luciferase reporter plasmidVKORC1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for VKORC1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins0.82
    Warfarin Pathway, Pharmacodynamics0.67
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation0.46
    4Ubiquinone and other terpenoid-quinone biosynthesis
    Ubiquinone and other terpenoid-quinone biosynthesis0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for VKORC1
        Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Metabolism of proteins
    Post-translational protein modification
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation

    1 PharmGKB Pathway for VKORC1
        Warfarin Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for VKORC1):
        Ubiquinone and other terpenoid-quinone biosynthesis


    VKORC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VKORC1

    1 Interacting protein for VKORC1 (Q9BQB63) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CREB3O438893I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017144drug metabolic process IMP--
    GO:0017187peptidyl-glutamic acid carboxylation TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    VKORC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    VKORC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VKORC1 (VKOR1)

    8 HMDB Compounds for VKORC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    1,4-Dithiothreitol ----
    2,3-Butanediol2,3-Butandiol (see all 8)513-85-9--
    Glucosylceramide (d18:1/16:0)1-O-b-D-glucopyranosyl-Ceramide (see all 8)85305-87-9--
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--
    Vitamin K12',3'-trans-Vitamin K1 (see all 36)12001-79-5--
    Vitamin K1 2,3-epoxide(2,3-Epoxyphytyl)menaquinone (see all 10)25486-55-9--
    Warfarin(phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarin (see all 105)81-81-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    6 DrugBank Compounds for VKORC1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    AcenocoumarolAcenocoumarin (see all 7)152-72-7targetinhibitor15790782 16815313 11752352 16869821 16611310 17596133 19515014
    Warfarin-- 81-81-2targetinhibitor17653141 17510308 11752352 17161452 17275317 17413769
    PhenprocoumonFenprocumone [DCIT] (see all 5)435-97-2targetinhibitor2706010 16201835 3207986 11752352 17192772
    DicumarolBis-Hydroxycoumarin (see all 4)66-76-2targetinhibitor2424118 17139284 11752352 17016423
    Menadione2-Methyl-1,4-Naphthalenedione (see all 7)58-27-5targetcofactor17139284 16102054 17016423 16677080
    Phenindione-- 83-12-5targetinhibitor9465843 17139284 11752352 17016423

    10/14 Novoseek inferred chemical compound relationships for VKORC1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin k epoxide 99.3 229 2342073 (4), 16270630 (4), 19181737 (2), 17182266 (2) (see all 99)
    vitamin k hydroquinone 93.3 7 16081695 (1), 20110994 (1), 16270630 (1), 9360981 (1) (see all 7)
    warfarin 92.4 373 18680536 (8), 16513444 (6), 16890578 (6), 19077919 (5) (see all 99)
    acenocoumarol 87.5 28 16869821 (3), 16611310 (3), 20020283 (3), 19225451 (3) (see all 11)
    coumarin 78.4 39 16270630 (4), 17849045 (3), 17124101 (2), 18278162 (2) (see all 11)
    coumarins 77.4 15 17635701 (2), 20205664 (1), 19324988 (1), 18278162 (1) (see all 12)
    phenprocoumon 76.3 10 19319511 (3), 20020283 (3), 17955831 (1), 20376629 (1) (see all 6)
    vitamin k1 72 3 19297519 (1)
    epoxide 60.2 8 15972850 (1), 18998206 (1), 19297519 (1), 16270630 (1) (see all 8)
    r-warfarin 59.8 1 16879214 (1)

    4 PharmGKB related drug/compound annotations for VKORC1 gene    About this table
    Drug/compound PharmGKB Annotation
    acenocoumarol  CA  
    fluindioneCA  
    phenprocoumon  CA  
    warfarin  CA  

    Search CenterWatch for drugs/clinical trials and news about VKORC1 / VKOR1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for VKORC1 gene (2 alternative transcripts): 
    NM_024006.4  NM_206824.1  

    Unigene Cluster for VKORC1:

    Vitamin K epoxide reductase complex, subunit 1
    Hs.324844  [show with all ESTs]
    Unigene Representative Sequence: CD251196
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300851 ENST00000319788(uc002eau.3) ENST00000354895(uc002eat.3)
    ENST00000394975(uc002eas.3) ENST00000420057 ENST00000394971 ENST00000498155
    ENST00000472468
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VKORC1
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    Additional mRNA sequence: 

    AF176924.1 AK129513.1 AK289790.1 AK312005.1 AY423044.1 AY466113.1 AY521634.1 BC000828.1 
    BC002911.2 

    9 DOTS entries:

    DT.100661283  DT.101972440  DT.97869834  DT.100661277  DT.95285781  DT.100661278  DT.91759743  DT.444354 
    DT.100661280 

    24/429 AceView cDNA sequences (see all 429):

    AA258579 AW136724 AA296693 BM721706 CA423003 BU185100 CD370301 BU626701 
    BX396175 BU541676 BU173466 BE140096 AI379942 AW872762 CA841848 BG034488 
    BC000828 BU526891 AA297475 BM667161 AA708126 BQ062209 CR623242 AI869708 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for VKORC1    About this scheme

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


    ECgene alternative splicing isoforms for VKORC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    VKORC1 expression in normal human tissues (normalized intensities)      VKORC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTGGTCTC
    VKORC1 Expression
    About this image


    VKORC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             lung ; pneumocytes   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             liver ; bile duct cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

    See VKORC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VKORC1

    SOURCE GeneReport for Unigene cluster: Hs.324844

    UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6
    Tissue specificity: Expressed at highest levels in fetal and adult liver, followed by fetal heart, kidney, and
    lung, adult heart, and pancreas

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for VKORC1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vkorc11 , 5 vitamin K epoxide reductase complex, subunit 11, 5 83.02(n)1
    85.71(a)1
      7 (69.81 cM)5
    279731  NM_178600.21  NP_848715.11 
     1278930675 
    lizard
    (Anolis carolinensis)
    Reptilia VKORC1L16
    Uncharacterized protein
    45(a)
    1 → many
    GL343220.1(2177077-2183114)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3984672 hypothetical protein LOC398467 68.2(n)    BC043742.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wu:fc03a111 wu:fc03a11 56.04(n)
    53.75(a)
      100000559  XM_001336424.3  XP_001336460.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vkor1 Vitamin-K epoxide reductase 49.21(n)
    42.86(a)
      3346188  NM_001014533.2  NP_001014533.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for VKORC1 gene
    ENSG000002554392  VKORC1L12  
    1 SIMAP similar gene for VKORC1 using alignment to 9 protein entries:     VKOR1_HUMAN (see all proteins):
    VKORC1L1

    VKORC1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for VKORC1
    PGOHUM00000241688


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/163 SNPs in VKORC1 are shown (see all 163)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0657954
    Coumarin resistance (CMRES)4--see VAR_0657952 N S mis40--------
    VAR_0657884
    Coumarin resistance (CMRES)4--see VAR_0657882 S W mis40--------
    VAR_0657904
    Coumarin resistance (CMRES)4--see VAR_0657902 W C mis40--------
    VAR_0657984
    Coumarin resistance (CMRES)4--see VAR_0657982 Y H mis40--------
    VAR_0657914
    Coumarin resistance (CMRES)4--see VAR_0657912 W L mis40--------
    VAR_0218244
    Combined deficiency of vitamin K-dependent clotting factors 2 (VKCFD2)4--see VAR_0218242 R W mis40--------
    VAR_0657924
    Coumarin resistance (CMRES)4--see VAR_0657922 V G mis40--------
    VAR_0657864
    Coumarin resistance (CMRES)4--see VAR_0657862 D G mis40--------
    VAR_0657854
    Coumarin resistance (CMRES)4--see VAR_0657852 A T mis40--------
    VAR_0657944
    Coumarin resistance (CMRES)4--see VAR_0657942 G A mis40--------

    HapMap Linkage Disequilibrium report for VKORC1 (31102163 - 31107301 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for VKORC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv905729CNV Loss21882294
    dgv2670n71CNV Loss21882294
    nsv457483CNV Loss19166990
    dgv2672n71CNV Loss21882294
    esv999616CNV Gain20482838
    nsv833193CNV Gain+Loss17160897


    Human Gene Mutation Database (HGMD): VKORC1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608547   
    OMIM disorders: 607473  122700  
    UniProtKB/Swiss-Prot: VKOR1_HUMAN, Q9BQB6
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/30 diseases for VKORC1 (see all 30):    About MalaCards
    warfarin sensitivity    warfarin resistance    vitamin k-dependent clotting factors, combined deficiency of, 2    coumarin resistance
    blood clots    vitamin k deficiency hemorrhagic disease    hemorrhagic disease    portal vein thrombosis
    venous thromboembolism    deep vein thrombosis    cerebrovascular accident    pulmonary embolism
    thrombosis    thromboembolism    coronary heart disease    antiphospholipid syndrome
    cytochrome p450    vascular disease    atherosclerosis    kidney disease

    1 disease from the University of Copenhagen DISEASES database for VKORC1:
    Vitamin K deficiency hemorrhagic disease

    VKORC1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for VKORC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    warfarin resistance 92.6 18 14765194 (2), 18680536 (2), 15630486 (2), 18266023 (2) (see all 9)
    coagulation factor deficiency 78.6 5 16720838 (1), 14765194 (1), 16270630 (1), 19116367 (1)
    bleeding 53.3 16 16201835 (3), 20362363 (3), 20121287 (2), 20205664 (1) (see all 11)
    stroke 16.7 15 18841283 (6), 16549638 (3), 20193673 (2), 17049586 (1) (see all 6)
    aortic dissection 9.05 5 16549638 (3), 17549303 (1)
    tumors 0.54 1 15972850 (1)
    atherosclerosis 0 2 16549638 (1)
    coronary heart disease 0 7 16549638 (3), 17549303 (2), 18841283 (1)

    Genetic Association Database (GAD): VKORC1
    Human Genome Epidemiology (HuGE) Navigator: VKORC1 (212 documents)

    Export disorders for VKORC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for VKORC1 gene, integrated from 9 sources (see all 362):
    (articles sorted by number of sources associating them with VKORC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The c.-1639G > A polymorphism of the VKORC1 gene is a major determinant of the response to acenocoumarol in anticoagulated patients. (PubMed id 16611310)1, 4, 7, 9 Montes R....Hermida J. (2006)
    2. Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genotypes as determinants of acenocoumarol sensitivity. (PubMed id 15790782)1, 4, 7, 9 Bodin L....Loriot M.A. (2005)
    3. A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk. (PubMed id 16201835)1, 4, 7, 9 Reitsma P.H....Buller H.R. (2005)
    4. Influence of CYP2C9 and VKORC1 1173C/T genotype on the risk of hemorrhagic complications in African-American and European-American patients on warfarin. (PubMed id 17653141)1, 4, 7 Limdi N.A....Acton R.T. (2008)
    5. Estimation of warfarin maintenance dose based on VKORC1 (-1639 G>A) and CYP2C9 genotypes. (PubMed id 17510308)1, 4, 7 Zhu Y....Linder M.W. (2007)
    6. Plasma S/R ratio of warfarin co-varies with VKORC1 haplotype. (PubMed id 17413769)1, 4, 7 Osman A....Lindahl T.L. (2007)
    7. The genetic interaction between VKORC1 c1173t and calumenin a29809g modulates the anticoagulant response of acenocoumarol. (PubMed id 17596133)1, 4, 7 Gonzalez-Conejero R....Vicente V. (2007)
    8. VKORC1 and CYP2C9 genotypes and phenprocoumon anticoagulation status: interaction between both genotypes affects dose requirement. (PubMed id 17192772)1, 4, 7 Schalekamp T....de Boer A. (2007)
    9. VKORC1 and CYP2C9 genotypes and acenocoumarol anticoagulation status: interaction between both genotypes affects overanticoagulation. (PubMed id 16815313)1, 4, 7 Schalekamp T....de Boer A. (2006)
    10. Vitamin K epoxide reductase complex subunit 1 (VKORC1): the key protein of the vitamin K cycle. (PubMed id 16677080)1, 7, 9 Oldenburg J....Watzka M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79001 HGNC: 23663 AceView: VKORC1 Ensembl:ENSG00000167397 euGenes: HUgn79001
    ECgene: VKORC1 Kegg: 79001 H-InvDB: VKORC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for VKORC1 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/vkorc1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for VKORC1 gene:
    Search GeneIP for patents involving VKORC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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