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... See more...

Aliases for PMVK Gene

Aliases for PMVK Gene

  • Phosphomevalonate Kinase 2 3 4 5
  • HUMPMKI 2 3
  • PMKA 2 3
  • PMK 2 3
  • Testis Tissue Sperm-Binding Protein Li 95mP 3
  • EC 2.7.4.2 4
  • PMKASE 3
  • POROK1 3
  • PMKase 4
  • PMVK 5
  • PMKI 4
  • HPMK 4

External Ids for PMVK Gene

Previous GeneCards Identifiers for PMVK Gene

  • GC01P148261
  • GC01M150628
  • GC01M151672
  • GC01M152113
  • GC01M152093
  • GC01M151711
  • GC01M153163
  • GC01M154897
  • GC01M126259

Summaries for PMVK Gene

Entrez Gene Summary for PMVK Gene

  • 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]

GeneCards Summary for PMVK Gene

PMVK (Phosphomevalonate Kinase) is a Protein Coding gene. Diseases associated with PMVK include Porokeratosis 1, Multiple Types and Porokeratosis. Among its related pathways are Terpenoid backbone biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphomevalonate kinase activity.

UniProtKB/Swiss-Prot Summary for PMVK Gene

  • Catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to produce mevalonate diphosphate and ADP, a key step in the mevalonic acid mediated biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PMVK Gene

Genomics for PMVK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PMVK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMVK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PMVK

Top Transcription factor binding sites by QIAGEN in the PMVK gene promoter:
  • ATF6
  • C/EBPalpha
  • CHOP-10
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • HNF-4alpha1
  • MZF-1
  • YY1

Genomic Locations for PMVK Gene

Genomic Locations for PMVK Gene
chr1:154,924,740-154,942,658
(GRCh38/hg38)
Size:
17,919 bases
Orientation:
Minus strand
chr1:154,897,208-154,909,484
(GRCh37/hg19)
Size:
12,277 bases
Orientation:
Minus strand

Genomic View for PMVK Gene

Genes around PMVK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMVK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMVK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMVK Gene

Proteins for PMVK Gene

  • Protein details for PMVK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15126-PMVK_HUMAN
    Recommended name:
    Phosphomevalonate kinase
    Protein Accession:
    Q15126
    Secondary Accessions:
    • Q5TZW9

    Protein attributes for PMVK Gene

    Size:
    192 amino acids
    Molecular mass:
    21995 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for PMVK Gene

neXtProt entry for PMVK Gene

Post-translational modifications for PMVK Gene

  • Ubiquitination at Lys48
  • Modification sites at PhosphoSitePlus

Other Protein References for PMVK Gene

No data available for DME Specific Peptides for PMVK Gene

Domains & Families for PMVK Gene

Gene Families for PMVK Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PMVK Gene

InterPro:
Blocks:
  • Higher eukaryotic phosphomevalonate kinase
ProtoNet:

Suggested Antigen Peptide Sequences for PMVK Gene

GenScript: Design optimal peptide antigens:
  • Phosphomevalonate kinase (PMVK_HUMAN)
  • cDNA, FLJ93228, Homo sapiens phosphomevalonate kinase (PMVK), mRNA (Q6FGV9_HUMAN)
genes like me logo Genes that share domains with PMVK: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PMVK Gene

Function for PMVK Gene

Molecular function for PMVK Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to produce mevalonate diphosphate and ADP, a key step in the mevalonic acid mediated biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-5-phosphomevalonate + ATP = (R)-5-diphosphomevalonate + ADP; Xref=Rhea:RHEA:16341, ChEBI:CHEBI:30616, ChEBI:CHEBI:57557, ChEBI:CHEBI:58146, ChEBI:CHEBI:456216; EC=2.7.4.2; Evidence={ECO:0000269|PubMed:16519518, ECO:0000269|PubMed:17902708, ECO:0000269|PubMed:8663599, ECO:0000269|PubMed:9392419};.
UniProtKB/Swiss-Prot Induction:
By sterol.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=25 uM for (R)-5-phosphomevalonate {ECO:0000269|PubMed:16519518, ECO:0000269|PubMed:9392419}; KM=0.26 mM for ATP {ECO:0000269|PubMed:16519518, ECO:0000269|PubMed:9392419}; Vmax=46.4 umol/min/mg enzyme with (R)-5-phosphomevalonate as substrate {ECO:0000269|PubMed:16519518, ECO:0000269|PubMed:9392419}; Vmax=52 umol/min/mg enzyme with ATP as substrate {ECO:0000269|PubMed:16519518, ECO:0000269|PubMed:9392419};
GENATLAS Biochemistry:
phosphomevalonate kinase ATP dependent,peroxisomal,converting melanovate 5-P into M5-PP in the pathway for the synthesis of cholesterol,and pathway for the synthesis of isoprenoids and cholesterol,a structural component of membranes and precursor for bile acids and steroid hormones,regulated by sterols

Enzyme Numbers (IUBMB) for PMVK Gene

Phenotypes From GWAS Catalog for PMVK Gene

Gene Ontology (GO) - Molecular Function for PMVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004631 phosphomevalonate kinase activity TAS --
GO:0005524 ATP binding IEA,IDA 16519518
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PMVK: view
genes like me logo Genes that share phenotypes with PMVK: view

Human Phenotype Ontology for PMVK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMVK

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PMVK Gene

Localization for PMVK Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMVK Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMVK gene
Compartment Confidence
peroxisome 5
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
cytoskeleton 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PMVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005777 NOT peroxisome IBA,IDA 14729858
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with PMVK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PMVK Gene

Pathways & Interactions for PMVK Gene

genes like me logo Genes that share pathways with PMVK: view

UniProtKB/Swiss-Prot Q15126-PMVK_HUMAN

  • Pathway: Isoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 2/3.

Gene Ontology (GO) - Biological Process for PMVK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process IBA,TAS --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with PMVK: view

No data available for SIGNOR curated interactions for PMVK Gene

Drugs & Compounds for PMVK Gene

(5) Drugs for PMVK Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0
(R)-5-diphosphomevalonate Pharma Inhibitor, Competitive 0

(9) Additional Compounds for PMVK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
(R)-Mevalonic acid-5-pyrophosphate
  • (R)-5-Diphosphomevalonic acid
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oate
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oic acid
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oic acid 1,3-dioxide
  • 5-Pyrophosphomevalonate
1492-08-6
(S)-5-Diphosphomevalonic acid
  • (R)-5-Diphosphomevalonate
  • (R)-5-Diphosphomevalonic acid
  • (S)-5-Diphosphomevalonate
  • (S)-Mevalonic acid-5-pyrophosphate
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-Oate
Mevalonic acid-5P
  • (R)-5-Phosphomevalonate
  • (R)-5-Phosphomevaloonic acid
  • (R)-Mevalonic acid 5-phosphate
  • (R)-5-Phosphomevalonic acid
  • Mevalonate-5P
73566-35-5
genes like me logo Genes that share compounds with PMVK: view

Transcripts for PMVK Gene

mRNA/cDNA for PMVK Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMVK

Alternative Splicing Database (ASD) splice patterns (SP) for PMVK Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5
SP1:
SP2:
SP3: -

Relevant External Links for PMVK Gene

GeneLoc Exon Structure for
PMVK

Expression for PMVK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PMVK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PMVK Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PMVK Gene



Protein tissue co-expression partners for PMVK Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PMVK

SOURCE GeneReport for Unigene cluster for PMVK Gene:

Hs.30954

mRNA Expression by UniProt/SwissProt for PMVK Gene:

Q15126-PMVK_HUMAN
Tissue specificity: Heart, liver, skeletal muscle, kidney, and pancreas. Lower level in brain, placenta and lung.

Evidence on tissue expression from TISSUES for PMVK Gene

  • Skin(4.8)
  • Liver(4.5)
  • Nervous system(3.3)
  • Kidney(2.6)
  • Blood(2.5)
  • Muscle(2.4)
  • Heart(2.3)
  • Lung(2.3)
  • Stomach(2.2)
  • Intestine(2.2)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PMVK Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Limb:
  • nail
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with PMVK: view

No data available for mRNA differential expression in normal tissues for PMVK Gene

Orthologs for PMVK Gene

This gene was present in the common ancestor of animals.

Orthologs for PMVK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PMVK 30 31
  • 97.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PMVK 30 31
  • 89.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PMVK 30 31
  • 89.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pmvk 30
  • 87.85 (n)
Mouse
(Mus musculus)
Mammalia Pmvk 30 17 31
  • 86.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PMVK 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PMVK 30 31
  • 66.21 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii pmvk 30 31
  • 59.64 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5364 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000338 30
  • 56.59 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG10268 30 31 32
  • 53.9 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F32D8.13 30 31
  • 49.42 (n)
OneToOne
Species where no ortholog for PMVK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PMVK Gene

ENSEMBL:
Gene Tree for PMVK (if available)
TreeFam:
Gene Tree for PMVK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PMVK: view image

Paralogs for PMVK Gene

No data available for Paralogs for PMVK Gene

Variants for PMVK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PMVK Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs139248801 Likely Benign: not provided 154,929,049(-) A/G MISSENSE_VARIANT
rs745983207 Pathogenic: Porokeratosis of Mibelli 154,926,384(-) G/A NONSENSE
rs879255607 Pathogenic: Porokeratosis of Mibelli 154,925,157(-) AG/A NONSENSE
VAR_075051 Porokeratosis 1, multiple types (POROK1) [MIM:175800] p.Lys69Glu
rs16836525 - p.Val125Met

Additional dbSNP identifiers (rs#s) for PMVK Gene

Structural Variations from Database of Genomic Variants (DGV) for PMVK Gene

Variant ID Type Subtype PubMed ID
nsv2977 CNV deletion 18451855
nsv464073 CNV loss 19166990
nsv509502 CNV insertion 20534489
nsv547960 CNV loss 21841781

Variation tolerance for PMVK Gene

Residual Variation Intolerance Score: 76.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PMVK Gene

Human Gene Mutation Database (HGMD)
PMVK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMVK

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMVK Gene

Disorders for PMVK Gene

MalaCards: The human disease database

(8) MalaCards diseases for PMVK Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porokeratosis 1, multiple types
  • porok1
porokeratosis
  • porokeratosis of mibelli
punctate porokeratosis
  • porokeratosis punctata palmaris et plantaris
linear porokeratosis
  • congenital facial linear porokeratosis
zellweger syndrome
  • zs
- elite association - COSMIC cancer census association via MalaCards
Search PMVK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PMVK_HUMAN
  • Porokeratosis 1, multiple types (POROK1) [MIM:175800]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269 PubMed:26202976, ECO:0000269 PubMed:27052676}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PMVK

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PMVK: view

No data available for Genatlas for PMVK Gene

Publications for PMVK Gene

  1. Characterization of phosphomevalonate kinase: chromosomal localization, regulation, and subcellular targeting. (PMID: 10191291) Olivier LM … Krisans SK (Journal of lipid research 1999) 2 3 4 23
  2. Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence. (PMID: 8663599) Chambliss KL … Gibson KM (The Journal of biological chemistry 1996) 2 3 4 23
  3. Crystal structure of human phosphomevalonate kinase at 1.8 A resolution. (PMID: 18618710) Chang Q … Liang DC (Proteins 2008) 3 4 23
  4. Functional evaluation of conserved basic residues in human phosphomevalonate kinase. (PMID: 17902708) Herdendorf TJ … Miziorko HM (Biochemistry 2007) 3 4 23
  5. Phosphomevalonate kinase: functional investigation of the recombinant human enzyme. (PMID: 16519518) Herdendorf TJ … Miziorko HM (Biochemistry 2006) 3 4 23

Products for PMVK Gene

  • Signalway ELISA kits for PMVK
  • Signalway Proteins for PMVK

Sources for PMVK Gene