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Aliases for PMVK Gene

Aliases for PMVK Gene

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

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 Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. Gene Ontology (GO) annotations related to this gene include phosphomevalonate kinase activity.

Additional gene information for PMVK Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMVK Gene

Genomics for PMVK Gene

GeneHancer (GH) Regulatory Elements for PMVK Gene

Promoters and enhancers for PMVK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J154935 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -0.3 -341 3.8 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ENSG00000270361 PMVK GON4L CLK2 KHDC4 UBAP2L ENSG00000271267 RUSC1-AS1 THBS3 CRTC2
GH01J154940 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 652.7 -5.7 -5703 6 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 YBX1 ZNF207 ZNF143 PMVK KCNN3 EFNA3 MSTO2P RUSC1 ADAR CLK2 RUSC1-AS1 GC01M154946 ENSG00000270361
GH01J154857 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 2.7 +76.5 76524 5.7 HDGF PKNOX1 IRF4 ZNF766 GLIS2 ZNF207 ZNF143 ATF7 RUNX3 JUNB KCNN3 ADAR PBXIP1 RUSC1 MUC1 FDPS PMVK RUSC1-AS1 CLK2 PIR50309
GH01J154931 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 +5.0 5006 2.2 ELF3 DMAP1 RAD21 RARA YY1 ZNF335 ZNF614 RCOR1 CREM THAP11 SHC1 RUSC1-AS1 LOC105371449 PMVK
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PMVK Gene

Genomic Locations for PMVK Gene
chr1:154,924,732-154,937,310
(GRCh38/hg38)
Size:
12,579 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Suggested Antigen Peptide Sequences for PMVK Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for PMVK Gene

Function for PMVK Gene

Molecular function for PMVK Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + (R)-5-phosphomevalonate = ADP + (R)-5-diphosphomevalonate.
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};
UniProtKB/Swiss-Prot Induction:
By sterol.
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:0004631 phosphomevalonate kinase activity TAS --
GO:0005524 ATP binding IDA,IEA 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
extracellular 5
peroxisome 5
cytosol 5
nucleus 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 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 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 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, Full agonist, Antagonist, Potentiation, Pore Blocker 0
(R)-5-diphosphomevalonate Pharma Competitive, Inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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

Unigene Clusters for PMVK Gene

Phosphomevalonate kinase:
Representative Sequences:

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
ECgene alternative splicing isoforms for
PMVK

Expression for PMVK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PMVK Gene:

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(4.7)
  • Liver(4.4)
  • Nervous system(2.5)
  • Kidney(2.3)

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 34 33
  • 97.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PMVK 34 33
  • 89.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PMVK 34 33
  • 89.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pmvk 33
  • 87.85 (n)
mouse
(Mus musculus)
Mammalia Pmvk 16 34 33
  • 86.63 (n)
oppossum
(Monodelphis domestica)
Mammalia PMVK 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves PMVK 34 33
  • 66.21 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pmvk 34 33
  • 59.64 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5364 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000338 33
  • 56.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10268 34 35 33
  • 53.9 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F32D8.13 34 33
  • 49.42 (n)
OneToOne
Species where no ortholog for PMVK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 from dbSNP and Humsavar for PMVK Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs745983207 pathogenic, Porokeratosis of Mibelli 154,926,384(-) G/A coding_sequence_variant, stop_gained
rs879255607 pathogenic, Porokeratosis of Mibelli 154,925,158(-) GG/G coding_sequence_variant, stop_gained
VAR_075051 Porokeratosis 1, multiple types (POROK1) [MIM:175800] p.Lys69Glu
rs139248801 likely-benign, not provided 154,929,049(-) A/G coding_sequence_variant, missense_variant
rs1000333419 -- 154,930,214(-) C/T intron_variant

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

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

Disorder Aliases PubMed IDs
porokeratosis 1, multiple types
  • porok1
porokeratosis
  • porokeratosis of mibelli
linear porokeratosis
  • congenital facial linear porokeratosis
punctate porokeratosis
  • porokeratosis punctata palmaris et plantaris
dacryoadenitis
  • dacryocystitis
- 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
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 22 58
  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 22 58
  3. Crystal structure of human phosphomevalonate kinase at 1.8 A resolution. (PMID: 18618710) Chang Q … Liang DC (Proteins 2008) 3 4 22 58
  4. Functional evaluation of conserved basic residues in human phosphomevalonate kinase. (PMID: 17902708) Herdendorf TJ … Miziorko HM (Biochemistry 2007) 3 4 22 58
  5. Phosphomevalonate kinase: functional investigation of the recombinant human enzyme. (PMID: 16519518) Herdendorf TJ … Miziorko HM (Biochemistry 2006) 3 4 22 58

Products for PMVK Gene

Sources for PMVK Gene

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