VKORC1 - vitamin K epoxide reductase complex subunit 1 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 79001

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
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
22046132 GOA
enables vitamin-K-epoxide reductase (warfarin-insensitive) activity IDA
IDA: Inferred from direct assay
33154105 GOA
enables vitamin-K-epoxide reductase (warfarin-sensitive) activity IDA
IDA: Inferred from direct assay
16270630 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in blood coagulation IMP
IMP: Inferred from mutant phenotype
16270630 GOA
involved in peptidyl-glutamic acid carboxylation IMP
IMP: Inferred from mutant phenotype
20978134 GOA
involved in vitamin K metabolic process IDA
IDA: Inferred from direct assay
16270630 GOA
involved in xenobiotic metabolic process IMP
IMP: Inferred from mutant phenotype
21127708 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
is active in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
22923610 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

VKORC1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
VKORC1 Q9BQB6 SDC3 Homo sapiens A0A0S2Z4U3 32296183
Intra
VKORC1 Q9BQB6 SDC3 Homo sapiens A0A0S2Z4U3 32296183
Intra
VKORC1 Q9BQB6 RMDN3 Homo sapiens Q96TC7 32296183
Intra
VKORC1 Q9BQB6 RMDN3 Homo sapiens Q96TC7 32296183
Intra
VKORC1 Q9BQB6 TMPRSS2 Homo sapiens O15393-2 32296183
Intra
VKORC1 Q9BQB6 TMPRSS2 Homo sapiens O15393-2 32296183
Intra
VKORC1 Q9BQB6 GPR152 Homo sapiens Q8TDT2 32296183
Intra
VKORC1 Q9BQB6 GPR152 Homo sapiens Q8TDT2 32296183
Intra
VKORC1 Q9BQB6 MUC1 Homo sapiens P15941-11 32296183
Intra
VKORC1 Q9BQB6 MUC1 Homo sapiens P15941-11 32296183
Intra
VKORC1 Q9BQB6 CPLX4 Homo sapiens Q7Z7G2 32296183
Intra
VKORC1 Q9BQB6 CPLX4 Homo sapiens Q7Z7G2 32296183
Intra
VKORC1 Q9BQB6 FAM209A Homo sapiens Q5JX71 32296183
Intra
VKORC1 Q9BQB6 FAM209A Homo sapiens Q5JX71 32296183
Intra
VKORC1 Q9BQB6 FAM210B Homo sapiens Q96KR6 32296183
Intra
VKORC1 Q9BQB6 FAM210B Homo sapiens Q96KR6 32296183
Cross
VKORC1 Q9BQB6 ORF7a Human SARS coronavirus Q19QW4 22046132
Cross
VKORC1 Q9BQB6 ORF7a Human SARS coronavirus Q19QW4 22046132
Intra
VKORC1 Q9BQB6 MANBAL Homo sapiens Q9NQG1 32296183
Intra
VKORC1 Q9BQB6 MANBAL Homo sapiens Q9NQG1 32296183
Intra
VKORC1 Q9BQB6 MANBAL Homo sapiens Q9NQG1 32296183
Intra
VKORC1 Q9BQB6 GORAB Homo sapiens Q5T7V8 32296183
Intra
VKORC1 Q9BQB6 GORAB Homo sapiens Q5T7V8 32296183
Intra
VKORC1 Q9BQB6 SAR1A Homo sapiens Q9NR31 32296183
Intra
VKORC1 Q9BQB6 SAR1A Homo sapiens Q9NR31 32296183
Intra
VKORC1 Q9BQB6 SAR1A Homo sapiens Q9NR31 32296183
Intra
VKORC1 Q9BQB6 SLC7A14 Homo sapiens Q8TBB6 32296183
Intra
VKORC1 Q9BQB6 SLC7A14 Homo sapiens Q8TBB6 32296183
Intra
VKORC1 Q9BQB6 CREB3L1 Homo sapiens Q96BA8 32296183
Intra
VKORC1 Q9BQB6 CREB3L1 Homo sapiens Q96BA8 32296183
Intra
VKORC1 Q9BQB6 BIK Homo sapiens Q13323 32296183
Intra
VKORC1 Q9BQB6 BIK Homo sapiens Q13323 32296183
Intra
VKORC1 Q9BQB6 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
VKORC1 Q9BQB6 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
VKORC1 Q9BQB6 ERGIC3 Homo sapiens Q9Y282 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

生物種 Symbol 由来 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