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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 ... See more...
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 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.
UniProtKB/Swiss-Prot Summary 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
- HGNC(23663)
- Entrez Gene(79001)
- Ensembl(ENSG00000167397)
- OMIM(608547)
- UniProtKB(Q9BQB6)
- Open Targets Platform(ENSG00000167397)
- Monarch Initiative
- Search for VKORC1 at DataMed
- Search for VKORC1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for VKORC1 Gene
Genomics for VKORC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for VKORC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around VKORC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VKORC1
- Top Transcription factor binding sites by QIAGEN in the VKORC1 gene promoter:
-
- Brachyury
- COMP1
- E47
- Ik-1
- Pax-5
- POU2F1
- POU2F1a
- SEF-1 (1)
- SRF
- SRF (504 AA)
Genomic Locations for VKORC1 Gene
Genomic Locations for VKORC1 Gene
- chr16:31,090,842-31,095,980
- (GRCh38/hg38)
- Size:
- 5,139 bases
- Orientation:
- Minus strand
- chr16:31,102,163-31,107,301
- (GRCh37/hg19)
- Size:
- 5,139 bases
- Orientation:
- Minus strand
Genomic View for VKORC1 Gene
Genes around VKORC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
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
- SequenceCaution:
-
- Sequence=AAQ88821.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
- 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).
Protein Expression for VKORC1 Gene
Selected DME Specific Peptides for VKORC1 Gene
- Q9BQB6:
-
- LNQSNSIFGC
- YLAWILFFVLYDFCIVCITTYAIN
- YRALCDVGTAISCSRVFSSRWGRGFGLVEH
Post-translational modifications for VKORC1 Gene
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 (AFLGC-VKORC1)
-
Biorbyt antibodies for VKORC1
-
Boster Bio Antibodies for VKORC1
-
Custom Antibody ServicesProSci Antibodies for VKORC1
- Sino Biological Antibodies for VKORC1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for VKORC1
- Origene Custom Protein Services for VKORC1
- antibodies-online: Show 4 available VKORC1 Proteins ranked by validation data
- Compare Top VKORC1 Proteins
-
Quality Products:
-
Signalway Proteins for VKORC1
-
Abcam proteins for VKORC1
Assay Products
- antibodies-online: Show 17 available VKORC1 Elisa Kits ranked by validation data
- Compare Top VKORC1 Elisa Kits
-
Quality Products:
-
Signalway ELISA 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
Protein Domains for VKORC1 Gene
- InterPro:
- Blocks:
-
- Vitamin K epoxide reductase
- 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 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=[protein]-disulfide + H2O + phylloquinone = 2,3-epoxyphylloquinone + [protein]-dithiol; Xref=Rhea:RHEA:13817, Rhea:RHEA-COMP:10593, Rhea:RHEA-COMP:10594, ChEBI:CHEBI:15377, ChEBI:CHEBI:15759, ChEBI:CHEBI:18067, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058; EC=1.17.4.4; Evidence={ECO:0000269|PubMed:15879509, ECO:0000269|PubMed:16270630, ECO:0000269|PubMed:20978134, ECO:0000269|PubMed:22923610};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=[protein]-disulfide + phylloquinol = [protein]-dithiol + phylloquinone; Xref=Rhea:RHEA:57744, Rhea:RHEA-COMP:10593, Rhea:RHEA-COMP:10594, ChEBI:CHEBI:18067, ChEBI:CHEBI:28433, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058; EC=1.17.4.4; Evidence={ECO:0000269|PubMed:15879509, ECO:0000269|PubMed:16270630, ECO:0000269|PubMed:20978134, ECO:0000269|PubMed:22923610};.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by warfarin (coumadin).
Enzyme Numbers (IUBMB) for VKORC1 Gene
Phenotypes From GWAS Catalog for VKORC1 Gene
| 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 | -- |
Phenotypes for VKORC1 Gene
- MGI mutant phenotypes for VKORC1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for VKORC1:
Animal Models for VKORC1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for VKORC1 - Select products 50% OFF >
- * VKORC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
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OriGene CRISPR knockouts for VKORC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VKORC1
-
Santa Cruz Biotechnology (SCBT) CRISPR 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for VKORC1
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Clone Products
- Applied Biological Materials (abm): Clones for VKORC1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201263
- MR201263
- MR201263L3
- MR201263L4
- RC202639
- RC202639L1
- RC202639L2
- RC202639L3
- RC202639L4
- RC214831
- RC214831L1
- RC214831L2
- RC214831L3
- RC214831L4
- RG202639
- RG214831
- RR215687
- RR215687L3
- RR215687L4
- MR201263L3V
- MR201263L4V
- RC202639L1V
- RC202639L2V
- RC202639L3V
- RC202639L4V
- RC214831L1V
- RC214831L2V
- RC214831L3V
- RC214831L4V
- RR215687L3V
- RR215687L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for VKORC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VKORC1
Cell Line Products
-
Horizon Cell Lines for VKORC1
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 | 4 |
| plasma membrane | 3 |
| extracellular | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (3)
| 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 | -- |
Pathways & Interactions for VKORC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Metabolism of fat-soluble vitamins | ||
| 3 | Ubiquinol biosynthesis | ||
| 4 | Warfarin Pathway, Pharmacodynamics | ||
| 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
2 KEGG pathways for VKORC1 Gene
Interacting Proteins for VKORC1 Gene
Selected Interacting proteins:
Q9BQB6-VKOR1_HUMAN
ENSP00000378426
for VKORC1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for VKORC1
| 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 |
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 | 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 | |
|---|---|---|---|---|---|---|
| 2,3-Butanediol |
|
513-85-9 |
|
|||
| 2,3-Epoxymenaquinone |
|
|
||||
| Glucosylceramide (d18:1/16:0) |
|
|
||||
| Oxidized dithiothreitol |
|
|
||||
| S-6-Hydroxywarfarin |
|
|
Transcripts for VKORC1 Gene
mRNA/cDNA for VKORC1 Gene
- 3 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000300851 876 nts (view in UCSC)
- ENST00000319788 1077 nts (view in UCSC)
- ENST00000354895 901 nts (view in UCSC)
- ENST00000394971 664 nts (view in UCSC)
- ENST00000394975 840 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for VKORC1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for VKORC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VKORC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for VKORC1
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for VKORC1 - Select products 50% OFF >
- * VKORC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG201263
- MR201263
- MR201263L3
- MR201263L4
- RC202639
- RC202639L1
- RC202639L2
- RC202639L3
- RC202639L4
- RC214831
- RC214831L1
- RC214831L2
- RC214831L3
- RC214831L4
- RG202639
- RG214831
- RR215687
- RR215687L3
- RR215687L4
- MR201263L3V
- MR201263L4V
- RC202639L1V
- RC202639L2V
- RC202639L3V
- RC202639L4V
- RC214831L1V
- RC214831L2V
- RC214831L3V
- RC214831L4V
- RR215687L3V
- RR215687L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for VKORC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VKORC1
| 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
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, MaxQB, and MOPED for VKORC1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VKORC1
SOURCE 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(4.7)
- Kidney(4.6)
- Lung(4.5)
- Pancreas(3.7)
- Liver(3.4)
- Skin(3.1)
- Heart(3)
- Blood(2.8)
- Muscle(2.5)
- Thyroid gland(2.3)
- Intestine(2.3)
- Stomach(2.2)
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
Gene Expression Assay Products
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 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 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398467 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | vkorc1 30 31 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Vkor 30 31 |
|
OneToMany |
- Species where no ortholog for VKORC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for VKORC1: view image
Paralogs for VKORC1 Gene
Paralogs for VKORC1 Gene
(1) SIMAP similar genes for VKORC1 Gene using alignment to 9 proteins:
- VKOR1_HUMAN
- A8MV79_HUMAN
- B5B596_HUMAN
- E2DSP6_HUMAN
- E7BQW0_HUMAN
- F2Z3Q2_HUMAN
- F8W9H0_HUMAN
- H0YF24_HUMAN
- I3L1P9_HUMAN
Pseudogenes.org Pseudogenes for VKORC1 Gene
Variants for VKORC1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VKORC1 Gene
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VKORC1 Gene
Disorders for VKORC1 Gene
(22) MalaCards diseases for VKORC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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 |
|
|
| retinal vascular occlusion |
|
|
| atrial fibrillation |
|
|
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
- Open Targets Platform
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 23 26 41
- 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 23 26 41
- A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk. (PMID: 16201835) Reitsma PH … Büller HR (PLoS medicine 2005) 3 23 26 41
- Genotype polymorphisms of GGCX, NQO1, and VKORC1 genes associated with risk susceptibility in patients with large-artery atherosclerotic stroke. (PMID: 20193673) Shyu HY … Cheng CW (Clinica chimica acta; international journal of clinical chemistry 2010) 3 23 41
- 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 23 41
ExternalLinks
Products for VKORC1 Gene
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- VectorBuilder Custom and pre-made DNA vectors for VKORC1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for VKORC1 (ie. lentivirus, AAV, adenovirus)
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- antibodies-online: Show 11 available VKORC1 Antibodies ranked by validation data
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- Custom Antibody ServicesProSci Antibodies for VKORC1
- Search for VKORC1 Proteins at ProSci
- Horizon Cell Lines for VKORC1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for VKORC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for VKORC1
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- Boster Bio Antibodies for VKORC1
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Sources for VKORC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54)