PMVK - phosphomevalonate kinase Gene

Homo sapiens

Also known as PMK; PMKA; PMKASE; POROK1; HUMPMKI

Gene ID: 10654 | Gene type: protein coding

About PMVK

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,924,740-154,942,658 (from NCBI)

This gene has 1 transcript (splice variant), 197 orthologues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 26.9), liver (RPKM 17.8) and 25 other tissues.

Summary

This gene encodes a peroxisomal Enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent Enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

PMVK Products(4)

mRNA	Protein	Name
NM_001323011.3	NP_001309940.1	phosphomevalonate kinase isoform 2
NM_001323012.3	NP_001309941.1	phosphomevalonate kinase isoform 3
NM_001348696.2	NP_001335625.1	phosphomevalonate kinase isoform 4
NM_006556.4	NP_006547.1	phosphomevalonate kinase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IDA IDA: Inferred from direct assay	16519518	GOA
enables phosphomevalonate kinase activity	IDA IDA: Inferred from direct assay	8663599	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cholesterol biosynthetic process	IDA IDA: Inferred from direct assay	8663599	GOA
involved in response to cholesterol	IEP IEP: Inferred from expression pattern	10191291	GOA
involved in sterol biosynthetic process	IDA IDA: Inferred from direct assay	16519518	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	14729858	GOA
NOT located in peroxisome	IDA IDA: Inferred from direct assay	14729858	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	17180682	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

PMVK Protein Structure

P-mevalo_kinase

0
100
192 a.a.

Protein Preferred Names

Protein Names

phosphomevalonate kinase

testis tissue sperm-binding protein Li 95mP

PMVK Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PMVK	Q15126	ZNF177	Homo sapiens	Q13360-2	Y2H Prey Pooling	32296183
Intra	PMVK	Q15126	ZNF177	Homo sapiens	Q13360-2	Y2H Array	32296183
Intra	PMVK	Q15126	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	PMVK	Q15126	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	PMVK	Q15126	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PMVK Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71217	PMVK Protein, Human (His)	Q15126 (M1-L192)	≥95%

Related Diseases

Diseases

Alias

Porokeratosis 1, Multiple Types

Porokeratosis Of Mibelli	POROK1
Porokeratosis 1, Mibelli Type

Linear Porokeratosis

Congenital Facial Linear Porokeratosis

Porokeratosis, Linear

Porokeratosis

Disseminated Superficial Actinic Porokeratosis	Dsap
Porokeratosis Of Mibelli	Porokeratosis, Disseminated Superficial Actinic
Porokeratosis, Disseminated Superficial Actinic, 1

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

Nutritional Deficiency Disease

Malnutrition	Nutritional Disorder
Nutritional Deficiency	Nutrition
Deficiency Diseases	Carbamoyl-Phosphate Synthase I Deficiency Disease
Nutrition Disorders

Discitis

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10774	PMVK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PMVK	VGNC	VGNC:44739
Felis catus	PMVK	VGNC	VGNC:68928
Macaca mulatta	PMVK	VGNC	VGNC:106474
Rattus norvegicus	PMVK	RGD	RGD:1310812
Bos taurus	PMVK	VGNC	VGNC:33078
Mus musculus	PMVK	MGD	MGI:1915853
Others	PMVK	NCBI

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