MVK - mevalonate kinase Gene

Also Known as MK; LRBP; MVLK; POROK3

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 4598

About MVK

Cytogenetic location: 12q24.11 Genomic coordinates (GRCh38): 12:109,573,272-109,598,125 (from NCBI)

This gene has 17 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 10 phenotypes. Ubiquitous expression in testis (RPKM 9.3), liver (RPKM 7.8) and 25 other tissues.

Summary

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

MVK Products (8)

mRNA	Protein	Name
NM_000431.4	NP_000422.1	mevalonate kinase isoform a
NM_001114185.3	NP_001107657.1	mevalonate kinase isoform a
NM_001301182.2	NP_001288111.1	mevalonate kinase isoform b
NM_001414511.1	NP_001401440.1	mevalonate kinase isoform a
NM_001414512.1	NP_001401441.1	mevalonate kinase isoform c
NM_001414513.1	NP_001401442.1	mevalonate kinase isoform d
NM_001414514.1	NP_001401443.1	mevalonate kinase isoform e
NM_001414515.1	NP_001401444.1	mevalonate kinase isoform f

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables identical protein binding	IDA IDA: Inferred from direct assay	9325256	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables mevalonate kinase activity	IDA IDA: Inferred from direct assay	1377680	GOA
enables mevalonate kinase activity	IMP IMP: Inferred from mutant phenotype	10369261	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cholesterol biosynthetic process	IDA IDA: Inferred from direct assay	1377680	GOA
involved in isoprenoid biosynthetic process	IDA IDA: Inferred from direct assay	14680974	GOA
involved in negative regulation of inflammatory response	IMP IMP: Inferred from mutant phenotype	16732551	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cytosol	IDA IDA: Inferred from direct assay	14730012	GOA
NOT located in peroxisome	IDA IDA: Inferred from direct assay	14730012	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

MVK Protein Structure

GHMP_kinases_N

GHMP_kinases_C

0
100
200
300
396 a.a.

Protein Preferred Names	Protein Names
mevalonate kinase	LH receptor mRNA-binding protein

MVK 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	MVK	Q03426	RNF141	Homo sapiens	Q8WVD5	Validated Y2H	32296183
Intra	MVK	Q03426	RNF141	Homo sapiens	Q8WVD5	Y2H Prey Pooling	32296183
Intra	MVK	Q03426	RNF141	Homo sapiens	Q8WVD5	Y2H Array	32296183
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Validated Y2H	32296183
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Y2H Array	25502805
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Y2H Array	26871637
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Y2H Array	32296183
Intra	MVK	Q03426	TACC3	Homo sapiens	Q9Y6A5	Anti Tag CoIP	28514442
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Y2H Pooling	16189514
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Y2H Array	31515488
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Y2H Prey Pooling	26871637
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Y2H Prey Pooling	32296183
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Pull Down	16189514
Intra	MVK	Q03426	MVK	Homo sapiens	Q03426	Validated Y2H	26871637
Intra	MVK	Q03426	POT1	Homo sapiens	Q9NUX5	Pull Down	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MVK Proteins

製品番号	製品名	アクセッション番号	純度
HY-P74739	MVK Protein, Human (sf9, His-GST)	Q03426 (M1-L396)	≥ 85%, as determined by reducing SDS-PAGE.

MVK 抗体

製品番号	製品名	アプリケーション	反応性
HY-P83348	MVK Antibody (YA3093)	WB, FC	Human
HY-P83348A	MVK Antibody (YA3093)(PBS only)	WB, FC	Human

関連疾患

Diseases	Alias
Mevalonic Aciduria	Mevalonate Kinase Deficiency Mevalonicaciduria Hyperimmunoglobulin D With Periodic Fever MEVA Complete Mevalonate Kinase Deficiency Mva Hyperimmunoglobulinemia D Hyper Igd Syndrome Periodic Fever, Dutch Type Mkd Aciduria, Mevalonic Deficiency Of Mevalonate Kinase
Hyper-Igd Syndrome	HIDS Hyperimmunoglobulinemia D And Periodic Fever Syndrome Hyperimmunoglobinemia D With Recurrent Fever Periodic Fever, Dutch Type Hyper Igd Syndrome Periodic Fever Dutch Type Hyperimmunoglobulinemia D With Periodic Fever Hyperimmunoglobulinemia D Syndrome Partial Mevalonate Kinase Deficiency Hyperimmunoglobulinemia D Deficiency Of Mevalonate Kinase
Porokeratosis 3, Multiple Types	Porokeratosis, Disseminated Superficial Actinic, 1 Dsap1 Porokeratosis 3, Disseminated Superficial Actinic Type POROK3 Porokeratosis, Disseminated Superficial Actinic 1 Disseminated Superficial Actinic Porokeratosis 1 Porokeratosis, Type 3, Multiple Types
Methylmalonic Aciduria, Cblb Type	Methylmalonic Aciduria Cblb Type Methylmalonic Acidemia Cblb Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type Methylmalonic Acidemia, Cblb Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb Methylmalonic Aciduria Type Cblb MMAB Methylmalonic Aciduria Type B Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B Aciduria, Methylmalonic, Cblb Type Methylmalonic Acidemia Methylmalonic Aciduria
Porokeratosis	Disseminated Superficial Actinic Porokeratosis Dsap Porokeratosis Of Mibelli Porokeratosis, Disseminated Superficial Actinic Porokeratosis, Disseminated Superficial Actinic, 1
Porokeratosis 1, Multiple Types	Porokeratosis Of Mibelli POROK1 Porokeratosis 1, Mibelli Type
Autoinflammatory Syndrome
Periodic Fever, Familial, Autosomal Dominant	Familial Hibernian Fever Tumor Necrosis Factor Receptor-Associated Periodic Syndrome Traps FPF Tnf Receptor-Associated Periodic Fever Syndrome Hibernian Fever, Familial Fhf Tnf Receptor-Associated Periodic Syndrome Autosomal Dominant Familial Periodic Fever Periodic Fever, Familial Tnf Receptor 1-Associated Periodic Syndrome Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome Familial Periodic Fever Traps Syndrome Tnf Receptor Associated Periodic Syndrome Caledonian Fever Fever, Periodic, Familial Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Relapsing Fever	Febris Recurrens Novy Febris Recurrens Novy Relapsing Fever
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Cinca Syndrome	CINCA Nomid Cryopyrin-Associated Periodic Syndrome 3 Chronic Neurologic Cutaneous And Articular Syndrome Multisystem Inflammatory Disease, Neonatal-Onset Caps3 Chronic Infantile Neurological Cutaneous Articular Syndrome Infantile-Onset Multisystem Inflammatory Disease Iomid Syndrome Neonatal-Onset Multisystem Inflammatory Disease Nomid Syndrome Prieur-Griscelli Syndrome Neonatal Onset Multisystem Inflammatory Disease Chronic Infantile Neurological, Cutaneous And Articular Syndrome Iomid Infantile Onset Multisystem Inflammatory Disease Prieur Griscelli Syndrome Chronic Infantile Neurological Cutaneous And Articular Syndrome Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome Chronic Infantile Neurologic Cutaneous And Articular Syndrome Chronic Infantile Neurological, Cutaneous, And Articular Syndrome Cryopyrin-Associated Periodic Syndromes
Cervical Adenitis	Cervical Lymphadenitis
Blau Syndrome	Arthrocutaneouveal Granulomatosis Jabs Syndrome BLAUS Sarcoidosis, Early-Onset Acug Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial Eos Granulomatosis, Familial Juvenile Systemic Granulomatosis, Familial, Blau Type Familial Juvenile Systemic Granulomatosis Early Onset Sarcoidosis Synovitis Granulomatous With Uveitis And Cranial Neuropathies Early-Onset Sarcoidosis Familial Granulomatosis, Blau Type Pediatric Granulomatous Arthritis Familial Granulomatosis Blau Type Familial Granulomatous Inflammatory Arthritis Dermatitis And Uveitis Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies
Pyoderma Gangrenosum	Phagedenic Pyoderma Phagedena Geometric
Familial Mediterranean Fever	Periodic Fever Syndrome FMF Benign Paroxysmal Peritonitis Periodic Disease Recurrent Polyserositis Familial Paroxysmal Polyserositis Periodic Fever Familial Mediterranean Fever, Autosomal Recessive Familial Mediterranean Fever, Ar Polyserositis, Recurrent Polyserositis, Familial Paroxysmal Periodic Peritonitis Mef Reimann Periodic Disease Siegal-Cattan-Mamou Disease Wolff Periodic Disease Benign Recurrent Polyserositis Mediterranean Fever, Familial ARFMF Autosomal Recessive Familial Mediterranean Fever Fever, Mediterranean, Familial, Autosomal Recessive Hereditary Autoinflammatory Diseases Fmf - [Familial Mediterranean Fever] Periodic Polyserositis Periodic Familial Polyserositis Periodic Familial Peritonitis Paroxysmal Polyserositis Hereditary Amyloid Nephropathy Familial Recurrent Polyserositis Familial Non-Neuropathic Amyloidosis Armenian Disease Riemann Periodic Disease Siegal Cattan Mamou Disease
Punctate Porokeratosis	Porokeratosis, Punctate Keratoderma, Palmoplantar, Punctate Type Ii
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Linear Porokeratosis	Congenital Facial Linear Porokeratosis Porokeratosis, Linear
Nutritional Deficiency Disease	Malnutrition Nutritional Disorder Nutritional Deficiency Nutrition Deficiency Diseases Carbamoyl-Phosphate Synthase I Deficiency Disease Nutrition Disorders
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Papa Syndrome Fra Familial Recurrent Arthritis Pyogenic Arthritis, Pyoderma Gangrenosum And Acne PAPAS Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne
Familial Cold Autoinflammatory Syndrome 2	FCAS2 Nlrp12-Associated Hereditary Periodic Fever Syndrome Familial Cold Autoinflammatory Syndrome Type 2 Familial Cold-Induced Autoinflammatory Syndrome Type 2 Naps12 Familial Cold Autoinflammatory Syndrome 2, Susceptibility To Autoinflammatory Syndrome, Cold, Familial, Type 2
Aphthous Stomatitis	Oral Ulcer Canker Sore Aphtha Aphthous Ulceration Oral Aphthae Oral Aphthous Ulcer Canker Sores Stomatitis, Aphthous Minor Oral Aphthous Ulceration
Familial Cold Autoinflammatory Syndrome	Familial Cold Urticaria Fcas Familial Polymorphous Cold Eruption Fcu Cold Hypersensitivity
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Intestinal Obstruction	Inspissated Milk Syndrome Milk Curd Syndrome
Phenylketonuria	Phenylalanine Hydroxylase Deficiency PKU Pah Deficiency Folling Disease Maternal Phenylketonuria Phenylketonurias Oligophrenia Phenylpyruvica Hyperphenylalaninemia, Non-Pku Mild Folling'S Disease Phenylalaninemia Mild Phenylketonuria Mild Pku Variant Pku Variant Phenylketonuria Mpku Deficiency Disease, Phenylalanine Hydroxylase Phenylketonuria, Maternal Phenylalanine Hydroxylase Deficiency Disease Hyperphenylalaninemic Embryopathy Maternal Pku Maternal Hyperphenylalaninemia Phenylketonuric Embryopathy Hyperphenylalaninemia HPA Non-Phenylketonuria Hyperphenylalaninemia NON-PKU HPA Phenylketonuria Maternal Classical Phenylketonuria Hyperphenylalaninaemia Pku - [Phenylketonuria]
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Muckle-Wells Syndrome	MWS Urticaria-Deafness-Amyloidosis Syndrome Uda Syndrome Neutrophilic Urticaria Urticaria, Deafness And Amyloidosis Cryopyrin-Associated Periodic Syndrome 2 Caps2 Muckle Wells Syndrome Urticaria-Deafness-Amyloidosis Cryopyrin-Associated Periodic Syndromes
Galactosemia I	Galactosemia Galt Deficiency Classic Galactosemia Galactose-1-Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiency GALAC1 Galactosemia, Classic Galactosemia Type 1 Galactosemias Classical Galactosemia Galactosaemia Galactose Intolerance Epimerase Deficiency Galactosemia Galactokinase Deficiency Disease Galactose Epimerase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Gale Deficiency Galk Deficiency Udp-Galactose-4-Epimerase Deficiency Disease Utp Hexose-1-Phosphate Uridylyltransferase Deficiency Galactosemia 1 Galactosemia, Duarte Variant Deficiency Of Galactokinase Udpglucose 4-Epimerase Deficiency Disease Classical Galactosaemia Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency Classic Galactosaemia Deficiency Of Hexose-1-Phosphate Uridylyltransferase Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency Of Galactose-1-Phosphate Uridylyltransferase Galactose-1-Phosphate Uridyl Transferase Deficiency Transferase Deficiency Galactosemia Deficiency Of Uridyl Transferase Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Erysipeloid	Infection Due To Erysipelothrix Rhusiopathiae Erysipelothrix Infection
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	SIFD Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome Sifd Syndrome
Psoriasis 15	Psors15
Pharyngitis	Acute Pharyngitis Chronic Pharyngitis Acute Sore Throat Chronic Sore Throat Persistent Sore Throat Pharyngeal Diseases Chronic Pharyn/Nasopharyngitis Chronic Pharyngitis And Nasopharyngitis Inflamed Throat Pharyngeal Disease Pharyngeal Disorder Pharyngitis - Acute Sore Throat - Chronic Acute Pharyngitis Nos Acute Sore Throat Nos Acute Throat Inflammation Infective Pharyngitis Infection Of Pharynx Acute Infective Pharyngitis Acute Infective Pharyngitis Nos Acute Pharyngeal Inflammation Inflammation Of The Throat Throat Inflammation Throat Infection Putrid Pharyngitis Pharyngeal Inflammation Pharyngitis Nos Chronic Throat Pain Throat Catarrh
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Child Syndrome Ichthyosiform Erythroderma, Unilateral, With Ipsilateral Malformations, Especially Absence Deformity Of Limbs Child Nevus Congenital Hemidysplasia With Ichthyosiform Nevus And Limbs Defects Congenital Hemidysplasia With Ichthyosiform Nevus And Limb Defects Ichthyosis, Child Syndrome Child Syndrome Ichthyosis CHILD
Ck Syndrome	CKS X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
Erysipelas
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
Cataract 34, Multiple Types	Cataract, Autosomal Recessive Congenital 3 Cataract 34 Multiple Types CTRCT34 Catc3 Cataract 34, Multiple Types, With Or Without Microcornea Autosomal Recessive Congenital Cataract 3 Cataract 34 Multiple Types With Or Without Microcornea Cataract, Multiple Types, Type 34
Pityriasis Rubra Pilaris	PRP Devergie'S Disease Prp - [Pityriasis Rubra Pilaris]
Periostitis
Pyoderma
Myopathy	Muscular Diseases Myopathies
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Behcet Syndrome	Behcet Disease Behcet'S Syndrome Behcet'S Disease Behçet Disease Bd Adamantiades-Behcet Disease Triple Symptom Complex Behçet'S Disease Behet'S Syndrome Bd Syndrome Behçet Syndrome Behçet'S Syndrome Behcet Triple Symptom Complex Malignant Aphthosis Old Silk Route Disease Adamantiades-Behçet Disease

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08857	MVK Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18739	Mvk Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25226	Mvk Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	MVK	VGNC	VGNC:82492
Canis familiaris	MVK	VGNC	VGNC:43509
Mus musculus	MVK	MGD	MGI:107624
Bos taurus	MVK	VGNC	VGNC:31768
Rattus norvegicus	MVK	RGD	RGD:621295
Macaca mulatta	MVK	VGNC	VGNC:75084
Others	MVK	NCBI