Aliases for VKORC1 Gene
Aliases for VKORC1 Gene
External Ids for VKORC1 Gene
- HGNC: 23663
- Entrez Gene: 79001
- Ensembl: ENSG00000167397
- OMIM: 608547
- UniProtKB: Q9BQB6
Previous HGNC Symbols for VKORC1 Gene
- VKCFD2
Previous GeneCards Identifiers for VKORC1 Gene
- GC16M031138
- GC16M031009
- GC16M028663
Summaries for VKORC1 Gene
-
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]
GeneCards Summary for VKORC1 Gene
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 and Metabolism of water-soluble vitamins and cofactors. 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.
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.
Additional gene information for VKORC1 Gene
- Monarch Initiative
- Search for VKORC1 at DataMed
- Search for VKORC1 at HumanCyc
No data available for CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for VKORC1 Gene
Genomics for VKORC1 Gene
GeneHancer (GH) Regulatory Elements for VKORC1 Gene
Promoters and enhancers for VKORC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around VKORC1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for VKORC1 Gene
Genomic Locations for VKORC1 Gene
- chr16:31,090,842-31,096,337
- (GRCh38/hg38)
- Size:
- 5,496 bases
- Orientation:
- Minus strand
- chr16:31,102,163-31,107,301
- (GRCh37/hg19)
Genomic View for VKORC1 Gene
Genes around VKORC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by Ensembl
- 16p11.2 by Entrez Gene
- 16p11.2 by HGNC
VKORC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for VKORC1 Gene
Selected DME Specific Peptides for VKORC1 Gene
- Q9BQB6:
-
- LNQSNSIFGC
- YLAWILFFVLYDFCIVCITTYAIN
- YRALCDVGTAISCSRVFSSRWGRGFGLVEH
Post-translational modifications for VKORC1 Gene
No Post-translational modifications
Other Protein References for VKORC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for VKORC1
-
Abcam antibodies for VKORC1
- Invitrogen Antibodies for VKORC1
- GeneTex VKORC1 antibody for VKORC1
-
Custom Antibody ServicesProSci Antibodies for VKORC1
Protein Products
-
OriGene Purified Proteins for VKORC1
- Search Origene for MassSpec and Protein Over-expression Lysates for VKORC1
- Origene Custom Protein Services for VKORC1
- antibodies-online: Search results for 4 available VKORC1 Proteins ranked by validation data
- Compare Top VKORC1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for VKORC1
-
Abcam proteins for VKORC1
Assay Products
-
Cloud-Clone Corp. Assay Kits for VKORC1
Domains & Families for VKORC1 Gene
Gene Families for VKORC1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- FDA approved drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for VKORC1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for VKORC1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ76521, highly similar to Homo sapiens vitamin K epoxide reductase complex, subunit 1 (VKORC1), transcript variant 2, mRNA (A6NIQ6_HUMAN)
- Vitamin K epoxide reductase complex (B5B596_HUMAN)
- Vitamin K epoxide reductase complex subunit 1 (E2DSP6_HUMAN)
- Vitamin K epoxide reductase complex subunit 1 (E7BQW0_HUMAN)
- Vitamin K1 2,3-epoxide reductase subunit 1 (VKOR1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BQB6UniProtKB/Swiss-Prot:
VKOR1_HUMAN :- 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.
- Belongs to the VKOR family.
- 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.
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
Phenotypes From GWAS Catalog for VKORC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0047057 | vitamin-K-epoxide reductase (warfarin-sensitive) activity | IDA | 16270630 |
| GO:0048038 | quinone binding | IEA | -- |
Phenotypes for VKORC1 Gene
- MGI mutant phenotypes for VKORC1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for VKORC1:
Animal Models for VKORC1 Gene
- MGI Knock Outs for VKORC1:
-
- Vkorc1 tm1.1Jobg
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for VKORC1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for VKORC1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for VKORC1 gene
- Search ViGene Biosciences for VKORC1
CRISPR Products
-
OriGene CRISPR knockouts for VKORC1
- genomics-online: gRNA clones - Search results for 118 available VKORC1 gene related products
- Overview of 118 available VKORC1 gene related products
- Applied Biological Materials CRISPR for VKORC1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for VKORC1
- GenScript: Design CRISPR guide RNA sequences for VKORC1
miRNA for VKORC1 Gene
- miRTarBase miRNAs that target VKORC1
-
- hsa-mir-133a-3p (MIRT007088)
- hsa-mir-124-3p (MIRT022348)
- hsa-mir-326 (MIRT043646)
- hsa-mir-320a (MIRT044407)
- hsa-mir-16-5p (MIRT051124)
- hsa-mir-6807-5p (MIRT723880)
- hsa-mir-4738-3p (MIRT723881)
- hsa-mir-6751-3p (MIRT723882)
- hsa-mir-1199-5p (MIRT723883)
- hsa-mir-484 (MIRT723884)
- hsa-mir-3155b (MIRT723885)
- hsa-mir-3155a (MIRT723886)
- hsa-mir-449b-3p (MIRT723887)
miRNA Products
- Search ViGene Biosciences for VKORC1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for VKORC1
- Browse OriGene Inhibitory RNA Products For VKORC1
- genomics-online: shRNA clones - Search results for 118 available VKORC1 gene related products
- Overview of 118 available VKORC1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for VKORC1 gene
Clone Products
- Sino Biological Human cDNA Clone for VKORC1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for VKORC1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for VKORC1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for VKORC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for VKORC1
-
ViGene Biosciences adenoviral particle packaged cDNA for VKORC1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for VKORC1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for VKORC1 gene
No data available for Transcription Factor Targets 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IDA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for VKORC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of fat-soluble vitamins | ||
| 2 | Ubiquinol biosynthesis | ||
| 3 | Warfarin Pathway, Pharmacodynamics | ||
| 4 | Metabolism |
.37
|
|
| 5 | Metabolism of water-soluble vitamins and cofactors | ||
Pathways by source for VKORC1 Gene
4 Reactome pathways for VKORC1 Gene
1 PharmGKB pathway for VKORC1 Gene
1 KEGG pathway for VKORC1 Gene
Interacting Proteins for VKORC1 Gene
Selected Interacting proteins:
Q9BQB6-VKOR1_HUMAN
ENSP00000378426
for VKORC1 Gene via
IID
STRING
MINT
| 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 | IMP | 20978134 |
| GO:0042373 | vitamin K metabolic process | TAS | -- |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for VKORC1 Gene
Drugs & Compounds for VKORC1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Acenocoumarol | Approved, Investigational | Pharma | Target, inhibitor | 35 | ||
| Warfarin | Approved | Pharma | Target, inhibitor | 505 | ||
| Phenprocoumon | Approved, Investigational | Pharma | Target, inhibitor | 32 | ||
| Menadione | Approved | Nutra | Target, cofactor, inhibitor | 257 | ||
| Dicumarol | Approved | Pharma | Target, inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| vitamin k1 |
|
12001-79-5 | ||||
| 2,3-Butanediol |
|
513-85-9 |
|
|||
| 2,3-Epoxymenaquinone |
|
|
||||
| Glucosylceramide (d18:1/16:0) |
|
85305-87-9 |
|
|||
| Oxidized dithiothreitol |
|
|
Transcripts for VKORC1 Gene
mRNA/cDNA for VKORC1 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (429) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for VKORC1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for VKORC1
- genomics-online: gRNA clones - Search results for 118 available VKORC1 gene related products
- Overview of 118 available VKORC1 gene related products
- Applied Biological Materials CRISPR for VKORC1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for VKORC1
- GenScript: Design CRISPR guide RNA sequences for VKORC1
miRNA Products
- Search ViGene Biosciences for VKORC1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for VKORC1
- Browse OriGene Inhibitory RNA Products For VKORC1
- genomics-online: shRNA clones - Search results for 118 available VKORC1 gene related products
- Overview of 118 available VKORC1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for VKORC1 gene
Clone Products
- Sino Biological Human cDNA Clone for VKORC1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for VKORC1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for VKORC1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for VKORC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||
| SP5: | - |
Expression for VKORC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Thyroid (Endocrine System)
- Pancreas (Endocrine System)
- Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for VKORC1 Gene
This gene is overexpressed in Liver (x4.3).
This gene is overexpressed in Pancreas (10.5) and Islet of Langerhans (10.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VKORC1 Gene
NURSA nuclear receptor signaling pathways regulating expression of VKORC1 Gene:
VKORC1SOURCE GeneReport for Unigene cluster for VKORC1 Gene:
Hs.324844mRNA 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.
Evidence on tissue expression from TISSUES for VKORC1 Gene
- Nervous system(4.6)
- Kidney(4.5)
- Lung(4.4)
- Pancreas(3.3)
- Liver(3)
- Heart(2.6)
- Blood(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for VKORC1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- skeleton
Regions:
Head and neck:
- face
- head
- nose
- skull
Thorax:
- clavicle
- thymus
Abdomen:
- liver
- spleen
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- red blood cell
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for VKORC1
-
OriGene qPCR primer pairs and template standards for VKORC1
Orthologs for VKORC1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | VKORC1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | VKORC1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | VKORC1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Gm21974 34 |
|
ManyToMany | |
| Vkorc1 33 16 34 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Vkorc1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398467 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | vkorc1 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Vkor 33 34 |
|
- Species where no ortholog for VKORC1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for VKORC1 Gene
Paralogs for VKORC1 Gene
(1) SIMAP similar genes for VKORC1 Gene using alignment to 9 proteins:
Pseudogenes.org Pseudogenes for VKORC1 Gene
Variants for VKORC1 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894539 | pathogenic, Warfarin response, Coumarin resistance (CMRES) [MIM:122700] | 31,094,645(-) | C/A | coding_sequence_variant, missense_variant | |
| rs104894540 | pathogenic, Warfarin response, Coumarin resistance (CMRES) [MIM:122700] | 31,094,596(-) | A/G | coding_sequence_variant, missense_variant | |
| rs104894541 | pathogenic, Warfarin response, Coumarin resistance (CMRES) [MIM:122700] | 31,094,558(-) | T/C | coding_sequence_variant, missense_variant | |
| rs104894542 | drug-response, Warfarin response, Coumarin resistance (CMRES) [MIM:122700] | 31,091,243(-) | A/C | coding_sequence_variant, missense_variant, synonymous_variant | |
| rs17708472 | drug-response, warfarin response - Dosage | 31,094,032(-) | G/A | intron_variant |
Residual Variation Intolerance Score:
88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.21;
4.80% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for VKORC1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VKORC1 Gene
Disorders for VKORC1 Gene
(11) MalaCards diseases for VKORC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| coumarin resistance |
|
|
| vitamin k-dependent clotting factors, combined deficiency of, 2 |
|
|
| hereditary combined deficiency of vitamin k-dependent clotting factors |
|
|
| resistance to vitamin k antagonists |
|
|
| vitamin k antagonists toxicity or dose selection |
|
|
Search VKORC1 in MalaCards
View complete list of genes associated with diseases
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, ECO:0000269 PubMed:16270630}. 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.
Additional Disease Information for VKORC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for VKORC1 Gene
Publications for VKORC1 Gene
- 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 (British journal of haematology 2006) 3 22 25 44 58
- A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk. (PMID: 16201835) Reitsma PH … Büller HR (PLoS medicine 2005) 3 22 25 44 58
- Cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) genotypes as determinants of acenocoumarol sensitivity. (PMID: 15790782) Bodin L … Loriot MA (Blood 2005) 3 22 25 44 58
- Impact of VKORC1 gene polymorphism on interindividual and interethnic warfarin dosage requirement--a systematic review and meta analysis. (PMID: 19942260) Yang L … Zhu H (Thrombosis research 2010) 3 22 44 58
- Pharmacogenetic impact of VKORC1 and CYP2C9 allelic variants on warfarin dose requirements in a hispanic population isolate. (PMID: 19567378) Palacio L … Camargo M (Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2010) 3 22 44 58
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Sources for VKORC1 Gene
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