PMVK (phosphomevalonate kinase)

2014-08-01  

Identity

HGNC
PMVK
LOCATION
1q21.3
LOCUSID
10654
ALIAS
HUMPMKI,PMK,PMKA,PMKASE,POROK1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
365855682023CELF1 Selectively Regulates Alternative Splicing of DNA Repair Genes Associated With Cataract in Human Lens Cell Line.2
380365652023CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection.1
365855682023CELF1 Selectively Regulates Alternative Splicing of DNA Repair Genes Associated With Cataract in Human Lens Cell Line.2
380365652023CaMKK2 and CHK1 phosphorylate human STN1 in response to replication stress to protect stalled forks from aberrant resection.1
270526762016Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis.14
270526762016Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
187985622009Substrate induced structural and dynamics changes in human phosphomevalonate kinase and implications for mechanism.4
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
187985622009Substrate induced structural and dynamics changes in human phosphomevalonate kinase and implications for mechanism.4
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
186187102008Crystal structure of human phosphomevalonate kinase at 1.8 A resolution.7
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.29
186187102008Crystal 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