VKORC1 - vitamin K epoxide reductase complex subunit 1 Gene

中文名称：维生素 K 环氧还原酶复合亚基 1

种属: Homo sapiens

同用名: VKOR; MST134; MST576; VKCFD2; EDTP308

基因 ID: 79001 | 基因类型: protein coding

关于 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.

功能概要

该基因编码维生素 K 环氧化物还原酶复合物的催化亚基，负责在内质网膜中将非活性维生素 K 2,3-环氧化物还原为活性维生素 K。维生素 K 是凝血酶中依赖维生素 K 的 γ-羧化酶对谷氨酸残基进行羧化所必需的辅助因子。该基因的等位基因变异与维生素 k 依赖性凝血因子联合缺乏 2，以及对维生素 K 环氧化物还原酶抑制剂华法林的抵抗力或敏感性增加有关。该基因的假基因位于 1 号和 X 号染色体上。可变剪接导致多个转录变体。[RefSeq 提供，2015 年 8 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	22046132	GOA
enables vitamin-K-epoxide reductase (warfarin-insensitive) activity	IDA IDA: 通过直接分析推断	33154105	GOA
enables vitamin-K-epoxide reductase (warfarin-sensitive) activity	IDA IDA: 通过直接分析推断	16270630	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in blood coagulation	IMP IMP: 通过突变表型推断	16270630	GOA
involved in peptidyl-glutamic acid carboxylation	IMP IMP: 通过突变表型推断	20978134	GOA
involved in vitamin K metabolic process	IDA IDA: 通过直接分析推断	16270630	GOA
involved in xenobiotic metabolic process	IMP IMP: 通过突变表型推断	21127708	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
is active in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	22923610	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

VKORC1 蛋白结构

VKOR

0
100
163 a.a.

蛋白主名

其他名称

vitamin K epoxide reductase complex subunit 1

phylloquinone epoxide reductase

VKORC1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	VKORC1	Q9BQB6	SDC3	Homo sapiens	A0A0S2Z4U3	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	SDC3	Homo sapiens	A0A0S2Z4U3	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	RMDN3	Homo sapiens	Q96TC7	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	RMDN3	Homo sapiens	Q96TC7	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	TMPRSS2	Homo sapiens	O15393-2	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	TMPRSS2	Homo sapiens	O15393-2	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	MUC1	Homo sapiens	P15941-11	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	MUC1	Homo sapiens	P15941-11	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	CPLX4	Homo sapiens	Q7Z7G2	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	CPLX4	Homo sapiens	Q7Z7G2	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	FAM210B	Homo sapiens	Q96KR6	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	FAM210B	Homo sapiens	Q96KR6	Y2H Array	32296183
Cross	VKORC1	Q9BQB6	ORF7a	Human SARS coronavirus	Q19QW4	Lumier	22046132
Cross	VKORC1	Q9BQB6	ORF7a	Human SARS coronavirus	Q19QW4	Y2H Pooling	22046132
Intra	VKORC1	Q9BQB6	MANBAL	Homo sapiens	Q9NQG1	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	MANBAL	Homo sapiens	Q9NQG1	Validated Y2H	32296183
Intra	VKORC1	Q9BQB6	MANBAL	Homo sapiens	Q9NQG1	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	GORAB	Homo sapiens	Q5T7V8	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	GORAB	Homo sapiens	Q5T7V8	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	SAR1A	Homo sapiens	Q9NR31	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	SAR1A	Homo sapiens	Q9NR31	Validated Y2H	32296183
Intra	VKORC1	Q9BQB6	SAR1A	Homo sapiens	Q9NR31	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	SLC7A14	Homo sapiens	Q8TBB6	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	SLC7A14	Homo sapiens	Q8TBB6	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	BIK	Homo sapiens	Q13323	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	BIK	Homo sapiens	Q13323	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	VKORC1	Q9BQB6	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	VKORC1	Q9BQB6	ERGIC3	Homo sapiens	Q9Y282	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15659	VKORC1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS15660	VKORC1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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