Tchem PMVK Phosphomevalonate kinase

Protein Summary

Description

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]

Uniprot Accession IDs

• Q15126
• Q5TZW9
• PMKase

Gene Name

• PMVK

Ensembl ID

• ENST00000368467
• ENSP00000357452
• ENSG00000163344

Symbol

• PMKI
• PMK
• PMKA
• PMKASE
• POROK1
• HUMPMKI

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor binding site profile	0.93
molecular function	0.88
histone modification site profile	0.84
interacting protein	0.78
transcription factor	0.74

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 212.6   (req: < 5)

Gene RIFs: 7   (req: <= 3)

Antibodies: 207   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 212.6   (req: >= 5)

Gene RIFs: 7   (req: > 3)

Antibodies: 207   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 4

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (4)

Explore Active Ligands

1 – 4 of 4

cinnamic acid

PMVKTchem Enzyme

pKi : 2.42

isoferulic acid

PMVKTchem Enzyme

pKi : 2.41

(R)-5-diphosphomevalonate

PMVKTchem Enzyme

pKi : 4.75

3-hydroxy-3-methyl-6-phosphohexanoic acid

PMVKTchem Enzyme

pKi : 3.84

Protein-Protein Interactions (63)

Explore Interacting Targets

1 – 10 of 63

• See Interactions on String-DB

SLC25A35

Tdark

Family:  Transporter

Novelty:  1.19834062

p_int:  0.993486663

p_ni:  0.006502548

p_wrong:  0.000010789

Score:  0.252

Data Source:  BioPlex,STRINGDB

SNRNP27

Tbio

Novelty:  0.0175187

p_int:  0.992398082

p_ni:  0.007586556

p_wrong:  0.000015362

Data Source:  BioPlex

FGB

Tbio

Novelty:  0.00437751

p_int:  0.991253789

p_ni:  0.008745925

p_wrong:  2.86e-7

Data Source:  BioPlex

ARL6IP6

Tdark

Novelty:  0.36643453

p_int:  0.982253413

p_ni:  0.017691754

p_wrong:  0.000054832

Score:  0.186

Data Source:  BioPlex,STRINGDB

SCNM1

Tbio

Novelty:  0.19700548

p_int:  0.98154327

p_ni:  0.018294338

p_wrong:  0.000162392

Score:  0.226

Data Source:  BioPlex,STRINGDB

GTF2E2

Tbio

Novelty:  0.18033153

p_int:  0.93909502

p_ni:  0.045132691

p_wrong:  0.015772289

Data Source:  BioPlex

ODAPH

Tbio

Novelty:  0.20386223

p_int:  0.904488436

p_ni:  0.085449263

p_wrong:  0.010062301

Data Source:  BioPlex

SLC25A32

Tbio

Family:  Transporter

Novelty:  0.06270404

p_int:  0.885402695

p_ni:  0.007556899

p_wrong:  0.107040407

Score:  0.186

Data Source:  BioPlex,STRINGDB

SETD3

Tbio

Family:  Epigenetic

Novelty:  0.07150702

p_int:  0.802328889

p_ni:  0.192614579

p_wrong:  0.005056532

Score:  0.187

Data Source:  BioPlex,STRINGDB

NPPA

Tchem

Novelty:  0.00046693

p_int:  0.791972227

p_ni:  0.196194568

p_wrong:  0.011833206

Data Source:  BioPlex

Nearest Tclin Targets (2)

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Upstream (1)

Downstream (1)

1 – 1 of 1

HMGCR

Tclin

Family:  Enzyme

KEGG Distance:  2

Common Pathways:  2

1: Metabolic pathways

2: Terpenoid backbone biosynthesis

Pathways (17)

Reactome (6)

KEGG (3)

PathwayCommons (5)

UniProt (1)

WikiPathways (2)

Activation of gene expression by SREBF (SREBP) (R-HSA-2426168)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Activation of gene expression by SREBF (SREBP)	42 targets	R-HSA-2426168
Reactome	Cholesterol biosynthesis	25 targets	R-HSA-191273
Reactome	Metabolism	2112 targets	R-HSA-1430728
Reactome	Metabolism of lipids	740 targets	R-HSA-556833
Reactome	Metabolism of steroids	151 targets	R-HSA-8957322

Name	Explore in Pharos	Explore in Source
Activation of gene expression by SREBF (SREBP)	42 targets	R-HSA-2426168
Cholesterol biosynthesis	25 targets	R-HSA-191273
Metabolism	2112 targets	R-HSA-1430728
Metabolism of lipids	740 targets	R-HSA-556833
Metabolism of steroids	151 targets	R-HSA-8957322

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (11)

Functions (2)

Components (4)

Processes (5)

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10

1 – 2 of 2

GO Term	Evidence	Assigned by
ATP binding	Inferred from Direct Assay (IDA)	UniProtKB
phosphomevalonate kinase activity	Inferred from Direct Assay (IDA)	UniProtKB

Disease Associations ()

No disease associations found

GWAS Traits (32)

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5

1 – 5 of 32

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
atrial fibrillation	EFO_0000275	9	6	0	1.1	98.5
BMI-adjusted waist-hip ratio	EFO_0007788	9	7	18		96.8
appendicular lean mass	EFO_0004980	3	3	6		95.3
eosinophil count	EFO_0004842	3	2	3		93.2
waist-hip ratio	EFO_0004343	3	7	9		90.5

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5

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
atrial fibrillation	EFO_0000275	0	1.1	98.5
BMI-adjusted waist-hip ratio	EFO_0007788	18		96.8
appendicular lean mass	EFO_0004980	6		95.3
eosinophil count	EFO_0004842	3		93.2
waist-hip ratio	EFO_0004343	9		90.5

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
ATP-binding
Cholesterol biosynthesis
Cholesterol metabolism
Complete proteome
Cytoplasm
Disease mutation
Kinase
Lipid biosynthesis
Lipid metabolism

GWAS Trait Find Similar Targets

No Header	No Header
appendicular lean mass
atrial fibrillation
basal cell carcinoma
birth weight
BMI-adjusted hip circumference
BMI-adjusted waist circumference
BMI-adjusted waist-hip ratio
body height
body height at birth
body mass index

IDG Resources

No IDG generated resources found

Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	phosphomevalonate kinase	VGNC:1461	457350
Mouse	phosphomevalonate kinase	MGI:1915853	68603
Rat	phosphomevalonate kinase	RGD:1310812	310645
Dog	phosphomevalonate kinase	VGNC:44739	612251
Horse	phosphomevalonate kinase	VGNC:21619	100062963

Species	Name	OMA	EggNOG	Inparanoid
Chimp	phosphomevalonate kinase
Mouse	phosphomevalonate kinase
Rat	phosphomevalonate kinase
Dog	phosphomevalonate kinase
Horse	phosphomevalonate kinase

Publication Statistics

PubMed Score 212.60

PubMed score by year

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PubTator Score 34.04

PubTator score by year

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Related Publications

Text Mined References (31)

GeneRif Annotations (7)

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PMID	Year	Title