Identity
HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
HUMPMKI,PMK,PMKA,PMKASE,POROK1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10654
MIM: 607622
HGNC: 9141
Ensembl: ENSG00000163344
Variants:
dbSNP: 10654
ClinVar: 10654
TCGA: ENSG00000163344
COSMIC: PMVK
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163344 | ENST00000368467 | Q15126 |
| ENSG00000163344 | ENST00000368467 | Q6FGV9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36585568 | 2023 | CELF1 Selectively Regulates Alternative Splicing of DNA Repair Genes Associated With Cataract in Human Lens Cell Line. | 2 |
| 38036565 | 2023 | CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection. | 1 |
| 36585568 | 2023 | CELF1 Selectively Regulates Alternative Splicing of DNA Repair Genes Associated With Cataract in Human Lens Cell Line. | 2 |
| 38036565 | 2023 | CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection. | 1 |
| 27052676 | 2016 | Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis. | 14 |
| 27052676 | 2016 | Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis. | 14 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 18798562 | 2009 | Substrate induced structural and dynamics changes in human phosphomevalonate kinase and implications for mechanism. | 4 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 18798562 | 2009 | Substrate induced structural and dynamics changes in human phosphomevalonate kinase and implications for mechanism. | 4 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 18618710 | 2008 | Crystal structure of human phosphomevalonate kinase at 1.8 A resolution. | 7 |
| 18660489 | 2008 | Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. | 29 |
| 18618710 | 2008 | Crystal structure of human phosphomevalonate kinase at 1.8 A resolution. | 7 |
Citation
Dessen P
PMVK (phosphomevalonate kinase)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54546/pmvk-(phosphomevalonate-kinase)
