Details for: PMVK

Gene ID: 10654

Symbol: PMVK

Ensembl ID: ENSG00000163344

Description: phosphomevalonate kinase

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.19
    Marker Score: 18,888
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 2.17
    Marker Score: 16,921
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.08
    Marker Score: 8,166
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.81
    Marker Score: 2,917
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.76
    Marker Score: 3,570
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.72
    Marker Score: 6,372
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.68
    Marker Score: 927
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.68
    Marker Score: 627
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.65
    Marker Score: 2,736
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.63
    Marker Score: 7,846
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.63
    Marker Score: 3,709
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.59
    Marker Score: 2,344
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.56
    Marker Score: 6,052
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.56
    Marker Score: 2,483
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.51
    Marker Score: 6,192
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.5
    Marker Score: 9,573
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.47
    Marker Score: 2,263
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.46
    Marker Score: 1,634
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 166,682
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.45
    Marker Score: 9,250
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.44
    Marker Score: 2,367
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.43
    Marker Score: 3,825
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.42
    Marker Score: 1,720
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.42
    Marker Score: 3,002
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.41
    Marker Score: 1,694
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.4
    Marker Score: 4,168
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.39
    Marker Score: 1,396
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.38
    Marker Score: 1,298
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.38
    Marker Score: 8,966
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.37
    Marker Score: 1,962
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.35
    Marker Score: 1,798
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.34
    Marker Score: 559
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.33
    Marker Score: 1,404
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.33
    Marker Score: 5,720
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.32
    Marker Score: 6,915
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.32
    Marker Score: 5,072
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 1.31
    Marker Score: 452
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.31
    Marker Score: 872
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.3
    Marker Score: 2,725
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.28
    Marker Score: 1,068
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.28
    Marker Score: 1,204
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.28
    Marker Score: 3,123
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.27
    Marker Score: 1,365
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.27
    Marker Score: 297
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.26
    Marker Score: 1,580
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.25
    Marker Score: 3,164
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 1.24
    Marker Score: 300
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.24
    Marker Score: 9,230
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.24
    Marker Score: 1,253
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.23
    Marker Score: 1,305
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.23
    Marker Score: 1,291
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.22
    Marker Score: 890
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.2
    Marker Score: 4,249
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.19
    Marker Score: 2,828
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.15
    Marker Score: 2,718
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.14
    Marker Score: 590
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 1.14
    Marker Score: 324
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 1.14
    Marker Score: 592
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 1.13
    Marker Score: 1,135
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.13
    Marker Score: 2,580
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.12
    Marker Score: 1,202
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.12
    Marker Score: 3,052
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.12
    Marker Score: 1,907
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.12
    Marker Score: 2,921
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.11
    Marker Score: 11,033
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.11
    Marker Score: 1,936
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.11
    Marker Score: 1,044
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.11
    Marker Score: 372
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.1
    Marker Score: 318
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.1
    Marker Score: 248
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.09
    Marker Score: 1,132
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.09
    Marker Score: 344
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.09
    Marker Score: 16,980
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.08
    Marker Score: 258
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.07
    Marker Score: 2,075
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.06
    Marker Score: 1,019
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.05
    Marker Score: 576
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.04
    Marker Score: 516
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 1.03
    Marker Score: 811
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.03
    Marker Score: 297
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.03
    Marker Score: 1,423
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.02
    Marker Score: 500
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.01
    Marker Score: 643
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 1.01
    Marker Score: 860
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.01
    Marker Score: 531
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1
    Marker Score: 220
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1
    Marker Score: 854
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1
    Marker Score: 2,763
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 1
    Marker Score: 265
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,585
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.99
    Marker Score: 1,284
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47,806
  • Cell Name: pre-B-I cell (CL0000956)
    Fold Change: 0.99
    Marker Score: 253
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.99
    Marker Score: 1,152
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.99
    Marker Score: 481
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.98
    Marker Score: 11,084
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.98
    Marker Score: 648
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 0.98
    Marker Score: 877
  • Cell Name: glomerular endothelial cell (CL0002188)
    Fold Change: 0.98
    Marker Score: 249
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.98
    Marker Score: 4,085

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Substrate specificity:** PMVK has a high substrate specificity for phosphomevalonate, a molecule derived from the isoprenoid biosynthesis pathway. 2. **Cofactor dependence:** PMVK relies on ATP as a cofactor to facilitate the conversion of phosphomevalonate to mevalonate. 3. **Regulatory mechanisms:** PMVK is regulated by various mechanisms, including phosphorylation and protein-protein interactions, which modulate its activity in response to changes in cellular energy status and cholesterol levels. 4. **Tissue specificity:** PMVK is expressed in various tissues, including epithelial cells, placental trophoblasts, and immune cells, highlighting its role in multiple physiological processes. **Pathways and Functions:** 1. **Mevalonate pathway:** PMVK is a key enzyme in the mevalonate pathway, which is responsible for the biosynthesis of cholesterol and other isoprenoids. 2. **Cholesterol biosynthesis:** PMVK plays a critical role in the conversion of phosphomevalonate to mevalonate, a necessary step in the cholesterol biosynthetic process. 3. **Regulation of cholesterol biosynthesis:** PMVK is regulated by various mechanisms, including phosphorylation and protein-protein interactions, which modulate its activity in response to changes in cellular energy status and cholesterol levels. 4. **Metabolic regulation:** PMVK is involved in the regulation of various metabolic processes, including lipid metabolism, steroid biosynthesis, and isoprenoid biosynthesis. **Clinical Significance:** 1. **Cholesterol disorders:** PMVK has been implicated in the development of cholesterol disorders, including hypercholesterolemia and atherosclerosis. 2. **Cancer:** PMVK has been found to be overexpressed in various types of cancer, including colorectal, breast, and lung cancer, suggesting its potential role in cancer development and progression. 3. **Neurological disorders:** PMVK has been implicated in the pathogenesis of various neurological disorders, including Alzheimer's disease and Parkinson's disease, where cholesterol biosynthesis is dysregulated. 4. **Pharmacological applications:** PMVK inhibitors have been explored as potential therapeutic agents for the treatment of various diseases, including cholesterol disorders and cancer. In conclusion, PMVK is a critical enzyme in the mevalonate pathway, playing a key role in cholesterol biosynthesis and metabolic regulation. Its dysregulation has been implicated in various diseases, including cholesterol disorders, cancer, and neurological disorders. Further research is needed to fully elucidate the role of PMVK in human health and disease.

Genular Protein ID: 921268410

Symbol: PMVK_HUMAN

Name: Phosphomevalonate kinase

UniProtKB Accession Codes:

Q15126 Q5TZW9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 ChEBI 9 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 5 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 3 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8663599

Title: Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence.

PubMed ID: 8663599

DOI: 10.1074/jbc.271.29.17330

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10191291

Title: Characterization of phosphomevalonate kinase: chromosomal localization, regulation, and subcellular targeting.

PubMed ID: 10191291

PubMed ID: 9392419

Title: Post-translational regulation of mevalonate kinase by intermediates of the cholesterol and nonsterol isoprene biosynthetic pathways.

PubMed ID: 9392419

PubMed ID: 14729858

Title: Phosphomevalonate kinase is a cytosolic protein in humans.

PubMed ID: 14729858

DOI: 10.1194/jlr.m300373-jlr200

PubMed ID: 16519518

Title: Phosphomevalonate kinase: functional investigation of the recombinant human enzyme.

PubMed ID: 16519518

DOI: 10.1021/bi052231u

PubMed ID: 17902708

Title: Functional evaluation of conserved basic residues in human phosphomevalonate kinase.

PubMed ID: 17902708

DOI: 10.1021/bi701408t

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 18618710

Title: Crystal structure of human phosphomevalonate kinase at 1.8 A resolution.

PubMed ID: 18618710

DOI: 10.1002/prot.22151

PubMed ID: 26202976

Title: Genomic variations of the mevalonate pathway in porokeratosis.

PubMed ID: 26202976

DOI: 10.7554/elife.06322

PubMed ID: 27052676

Title: Loss-of-function mutation in PMVK causes autosomal dominant disseminated superficial porokeratosis.

PubMed ID: 27052676

DOI: 10.1038/srep24226

Sequence Information:

  • Length: 192
  • Mass: 21995
  • Checksum: D7E720D0DDCCA249
  • Sequence:
    • MAPLGGAPRL VLLFSGKRKS GKDFVTEALQ SRLGADVCAV LRLSGPLKEQ YAQEHGLNFQ 
RLLDTSTYKE AFRKDMIRWG EEKRQADPGF FCRKIVEGIS QPIWLVSDTR RVSDIQWFRE 
AYGAVTQTVR VVALEQSRQQ RGWVFTPGVD DAESECGLDN FGDFDWVIEN HGVEQRLEEQ 
LENLIEFIRS RL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.