PMVK (phosphomevalonate kinase)

2014-08-01  

Identity

HGNC
LOCATION
1q21.3
LOCUSID
ALIAS
HUMPMKI,PMK,PMKA,PMKASE,POROK1
FUSION GENES

Other Information

Locus ID:

NCBI: 10654
MIM: 607622
HGNC: 9141
Ensembl: ENSG00000163344

Variants:

dbSNP: 10654
ClinVar: 10654
TCGA: ENSG00000163344
COSMIC: PMVK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163344ENST00000368467Q15126
ENSG00000163344ENST00000368467Q6FGV9

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Terpenoid backbone biosynthesisKEGGko00900
Terpenoid backbone biosynthesisKEGGhsa00900
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGhsa_M00095
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGM00095
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
147298582004Phosphomevalonate kinase is a cytosolic protein in humans.11
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
179027082007Functional evaluation of conserved basic residues in human phosphomevalonate kinase.8
186187102008Crystal structure of human phosphomevalonate kinase at 1.8 A resolution.6
187985622009Substrate induced structural and dynamics changes in human phosphomevalonate kinase and implications for mechanism.4
270526762016Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis.2

Citation

Dessen P

PMVK (phosphomevalonate kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54546/pmvk