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  2. VKORC1 - vitamin K epoxide reductase complex subunit 1 Gene

VKORC1 - vitamin K epoxide reductase complex subunit 1 Gene

Homo sapiens

Also known as VKOR; MST134; MST576; VKCFD2; EDTP308

Gene ID: 79001 | Gene type: protein coding

About VKORC1

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:31,090,854-31,094,797 (from NCBI)

This gene has 8 transcripts (splice variants), 185 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 74.3), fat (RPKM 26.7) and 25 other tissues.

Summary

This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

VKORC1 Products(3)

mRNA Protein Name
NM_001311311.2 NP_001298240.1 vitamin K epoxide reductase complex subunit 1 isoform 3 precursor
NM_024006.6 NP_076869.1 vitamin K epoxide reductase complex subunit 1 isoform 1 precursor
NM_206824.3 NP_996560.1 vitamin K epoxide reductase complex subunit 1 isoform 2 precursor

VKORC1 Protein Structure

VKOR

VKOR: Vitamin K epoxide reductase family (9 - 151)

  • 0
  • 100
  • 163 a.a.
Protein Preferred Names Protein Names

vitamin K epoxide reductase complex subunit 1

phylloquinone epoxide reductase

Related Diseases

Diseases Alias
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 2

VKCFD2

Combined Deficiency Of Vitamin K-Dependent Clotting Factors 2

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 2

Coumarin Resistance

Warfarin Resistance

Warfarin Sensitivity

Coumadin Sensitivity

Warfarin Response

Poor Metabolism Of Coumarin

Coumarin, Poor Metabolism Of

CMRES

Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors

Hereditary Combined Deficiency Of Factors Ii, Vii, Ix And X

Vkcfd

Atrial Fibrillation

A-Fib

Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

Aortic Dissection
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1

VKCFD1

Combined Deficiency Of Vitamin K-Dependent Clotting Factors 1

Vitamin K-Dependent Coagulation Defect

Multiple Coagulation Factor Deficiency Iii

Mcfd3

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, Type 1

Vkcfd

Familial Multiple Coagulation Factor Deficiency Iii

Fmfd Iii

Factors Ii, Vii, Ix, And X, Combined Deficiency Of

Glutamic Acid, Deficient Gamma-Carboxylation Of

Thrombosis

Thrombosis Of Blood Vessel

Budd-Chiari Syndrome

Hepatic Vein Thrombosis

Chiari Syndrome

BDCHS

Membranous Obstruction Of The Inferior Vena Cava

Budd-Chiari Syndrome, Somatic

Movc

Budd-Chiari Syndrome, Susceptibility To, Somatic

Budd-Chiari Syndrome, Susceptibility To

Membranous Obstruction Of Inferior Vena Cava

Hepatic Vein Block

Obstruction Of Hepatic Veins

Hepatic Vein Obstruction

Hepatic Venous Block

Pseudoxanthoma Elasticum

PXE

Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]

Vitamin K Deficiency Bleeding

Vitamin K Deficiency

Deficiency Of Vitamin K

Vitamin K

Vitamin K Deficiency Hemorrhagic Disease

Retinal Vein Occlusion

Occlusion, Of Retinal Vein

Abacavir Allergy

Abc Allergy

Factitious Disorder

Munchausen Syndrome

Factitious Disorders

Münchausen Syndrome

Thiopurines, Poor Metabolism Of, 1

Thiopurine S-Methyltransferase Deficiency

Tpmt Deficiency

Thiopurine Methyltransferase Deficiency

Thiopurine S Methyltranferase Deficiency

THPM1

Tpmtd

Poor Metabolism Of Thiopurines-1

6-Mercaptopurine Sensitivity

Thiopurines, Poor Metabolism Of

Poor Metabolism Of Thiopurines

Haverhill Fever

Streptobacillosis

Streptobacillary Rat-Bite Fever

Streptobacillary Fever

Rat-Bite Fever Due To Streptobacillus Moniliformis

Erythema Arthriticum Epidemicum

Epidemic Arthritic Erythema

Angioid Streaks
Pulmonary Artery Disease

Abnormality Of The Pulmonary Artery

Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome

Toxic Epidermal Necrolysis

Drug-Induced Stevens Johnson Syndrome

Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum

Susceptibility To Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis

Lyell'S Syndrome

Lyell Syndrome

Severe Cutaneous Adverse Reaction, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To

Hypersensitivity Syndrome, Carbamazepine-Induced

Stevens-Johnson Syndrome, Susceptibility To

Toxic Epidermal Necrolysis, Susceptibility To

Sjs/Ten

Susceptibility To Severe Cutaneous Adverse Reaction Ity To

Mycoplasma-Induced Stevens Johnson Syndrome

Dermatostomatitis, Stevens Johnson Type

Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum

Sjs-Ten

Toxic Epidermolysis

SJS

Dermatostomatitis Stevens Johnson Type

Ten

Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis]

Ten - [Toxic Epidermal Necrolysis]

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus VKORC1 VGNC VGNC:106436
Rattus norvegicus VKORC1 RGD RGD:1303107
Canis familiaris VKORC1 VGNC VGNC:54091
Mus musculus VKORC1 MGD MGI:106442
Others VKORC1 NCBI