Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10654
Gene name	Phosphomevalonate kinase
Gene symbol	PMVK
Synonyms (NCBI Gene)	HUMPMKIPMKPMKAPMKASEPOROK1
Chromosome	1
Chromosome location	1q21.3
Summary	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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs745983207	G>A	Pathogenic	Stop gained, coding sequence variant

137

Show/Hide all (137)

miRTarBase ID	miRNA	Experiments
MIRT1244673	hsa-miR-140-3p	CLIP-seq
MIRT1244674	hsa-miR-146a	CLIP-seq
MIRT1244675	hsa-miR-146b-5p	CLIP-seq
MIRT1244676	hsa-miR-2467-3p	CLIP-seq
MIRT1244677	hsa-miR-3140-5p	CLIP-seq
MIRT1244678	hsa-miR-3678-3p	CLIP-seq
MIRT1244679	hsa-miR-3922-5p	CLIP-seq
MIRT1244680	hsa-miR-4251	CLIP-seq
MIRT1244681	hsa-miR-4279	CLIP-seq
MIRT1244682	hsa-miR-4323	CLIP-seq
MIRT1244683	hsa-miR-450b-5p	CLIP-seq
MIRT1244684	hsa-miR-4656	CLIP-seq
MIRT1244685	hsa-miR-4687-3p	CLIP-seq
MIRT1244686	hsa-miR-4690-3p	CLIP-seq
MIRT1244687	hsa-miR-4708-3p	CLIP-seq
MIRT1244688	hsa-miR-4709-3p	CLIP-seq
MIRT1244689	hsa-miR-4717-5p	CLIP-seq
MIRT1244690	hsa-miR-4753-5p	CLIP-seq
MIRT1244691	hsa-miR-4758-3p	CLIP-seq
MIRT1244692	hsa-miR-507	CLIP-seq
MIRT1244693	hsa-miR-557	CLIP-seq
MIRT1244694	hsa-miR-589	CLIP-seq
MIRT1244695	hsa-miR-626	CLIP-seq
MIRT2072363	hsa-miR-1207-5p	CLIP-seq
MIRT2072364	hsa-miR-1224-3p	CLIP-seq
MIRT2072365	hsa-miR-183	CLIP-seq
MIRT2072366	hsa-miR-214	CLIP-seq
MIRT1244676	hsa-miR-2467-3p	CLIP-seq
MIRT2072367	hsa-miR-3201	CLIP-seq
MIRT2072368	hsa-miR-3619-5p	CLIP-seq
MIRT1244678	hsa-miR-3678-3p	CLIP-seq
MIRT2072369	hsa-miR-4267	CLIP-seq
MIRT2072370	hsa-miR-4291	CLIP-seq
MIRT1244682	hsa-miR-4323	CLIP-seq
MIRT2072371	hsa-miR-4450	CLIP-seq
MIRT2072372	hsa-miR-4667-5p	CLIP-seq
MIRT1244686	hsa-miR-4690-3p	CLIP-seq
MIRT2072373	hsa-miR-4690-5p	CLIP-seq
MIRT2072374	hsa-miR-4700-5p	CLIP-seq
MIRT2072375	hsa-miR-4736	CLIP-seq
MIRT1244691	hsa-miR-4758-3p	CLIP-seq
MIRT2072376	hsa-miR-4763-3p	CLIP-seq
MIRT2072377	hsa-miR-4791	CLIP-seq
MIRT2072378	hsa-miR-761	CLIP-seq
MIRT2072379	hsa-miR-922	CLIP-seq
MIRT2072363	hsa-miR-1207-5p	CLIP-seq
MIRT2072365	hsa-miR-183	CLIP-seq
MIRT2299546	hsa-miR-3074-5p	CLIP-seq
MIRT2072367	hsa-miR-3201	CLIP-seq
MIRT2299547	hsa-miR-3662	CLIP-seq
MIRT2299548	hsa-miR-3925-3p	CLIP-seq
MIRT2299549	hsa-miR-4257	CLIP-seq
MIRT2299550	hsa-miR-4312	CLIP-seq
MIRT2072371	hsa-miR-4450	CLIP-seq
MIRT2072372	hsa-miR-4667-5p	CLIP-seq
MIRT2072374	hsa-miR-4700-5p	CLIP-seq
MIRT2299551	hsa-miR-4722-3p	CLIP-seq
MIRT2072375	hsa-miR-4736	CLIP-seq
MIRT2072376	hsa-miR-4763-3p	CLIP-seq
MIRT2072377	hsa-miR-4791	CLIP-seq
MIRT2299552	hsa-miR-498	CLIP-seq
MIRT2299553	hsa-miR-520a-5p	CLIP-seq
MIRT2299554	hsa-miR-525-5p	CLIP-seq
MIRT2299555	hsa-miR-766	CLIP-seq
MIRT2072363	hsa-miR-1207-5p	CLIP-seq
MIRT2596253	hsa-miR-1289	CLIP-seq
MIRT2072365	hsa-miR-183	CLIP-seq
MIRT2596254	hsa-miR-2355-5p	CLIP-seq
MIRT2299546	hsa-miR-3074-5p	CLIP-seq
MIRT2596255	hsa-miR-3121-5p	CLIP-seq
MIRT1244677	hsa-miR-3140-5p	CLIP-seq
MIRT2596256	hsa-miR-3157-3p	CLIP-seq
MIRT2596257	hsa-miR-3198	CLIP-seq
MIRT2072367	hsa-miR-3201	CLIP-seq
MIRT2299547	hsa-miR-3662	CLIP-seq
MIRT2299548	hsa-miR-3925-3p	CLIP-seq
MIRT2299549	hsa-miR-4257	CLIP-seq
MIRT1244681	hsa-miR-4279	CLIP-seq
MIRT2596258	hsa-miR-4294	CLIP-seq
MIRT2596259	hsa-miR-4309	CLIP-seq
MIRT2299550	hsa-miR-4312	CLIP-seq
MIRT2596260	hsa-miR-432	CLIP-seq
MIRT2596261	hsa-miR-4434	CLIP-seq
MIRT2072371	hsa-miR-4450	CLIP-seq
MIRT2596262	hsa-miR-4516	CLIP-seq
MIRT2596263	hsa-miR-4531	CLIP-seq
MIRT2596264	hsa-miR-4667-3p	CLIP-seq
MIRT2072372	hsa-miR-4667-5p	CLIP-seq
MIRT1244685	hsa-miR-4687-3p	CLIP-seq
MIRT2072374	hsa-miR-4700-5p	CLIP-seq
MIRT1244688	hsa-miR-4709-3p	CLIP-seq
MIRT2299551	hsa-miR-4722-3p	CLIP-seq
MIRT2072375	hsa-miR-4736	CLIP-seq
MIRT2072376	hsa-miR-4763-3p	CLIP-seq
MIRT2072377	hsa-miR-4791	CLIP-seq
MIRT2299552	hsa-miR-498	CLIP-seq
MIRT2299553	hsa-miR-520a-5p	CLIP-seq
MIRT2299554	hsa-miR-525-5p	CLIP-seq
MIRT1244695	hsa-miR-626	CLIP-seq
MIRT2299555	hsa-miR-766	CLIP-seq
MIRT2596265	hsa-miR-874	CLIP-seq
MIRT2596266	hsa-miR-938	CLIP-seq
MIRT2072363	hsa-miR-1207-5p	CLIP-seq
MIRT2596253	hsa-miR-1289	CLIP-seq
MIRT2072365	hsa-miR-183	CLIP-seq
MIRT2596254	hsa-miR-2355-5p	CLIP-seq
MIRT2596255	hsa-miR-3121-5p	CLIP-seq
MIRT1244677	hsa-miR-3140-5p	CLIP-seq
MIRT2596256	hsa-miR-3157-3p	CLIP-seq
MIRT2596257	hsa-miR-3198	CLIP-seq
MIRT2072367	hsa-miR-3201	CLIP-seq
MIRT2299547	hsa-miR-3662	CLIP-seq
MIRT2299548	hsa-miR-3925-3p	CLIP-seq
MIRT2299549	hsa-miR-4257	CLIP-seq
MIRT1244681	hsa-miR-4279	CLIP-seq
MIRT2596258	hsa-miR-4294	CLIP-seq
MIRT2596259	hsa-miR-4309	CLIP-seq
MIRT2596260	hsa-miR-432	CLIP-seq
MIRT2596261	hsa-miR-4434	CLIP-seq
MIRT2072371	hsa-miR-4450	CLIP-seq
MIRT2596262	hsa-miR-4516	CLIP-seq
MIRT2596263	hsa-miR-4531	CLIP-seq
MIRT2596264	hsa-miR-4667-3p	CLIP-seq
MIRT2072372	hsa-miR-4667-5p	CLIP-seq
MIRT1244685	hsa-miR-4687-3p	CLIP-seq
MIRT2072374	hsa-miR-4700-5p	CLIP-seq
MIRT1244688	hsa-miR-4709-3p	CLIP-seq
MIRT2072375	hsa-miR-4736	CLIP-seq
MIRT2072376	hsa-miR-4763-3p	CLIP-seq
MIRT2072377	hsa-miR-4791	CLIP-seq
MIRT2299552	hsa-miR-498	CLIP-seq
MIRT2299553	hsa-miR-520a-5p	CLIP-seq
MIRT2299554	hsa-miR-525-5p	CLIP-seq
MIRT1244695	hsa-miR-626	CLIP-seq
MIRT2299555	hsa-miR-766	CLIP-seq
MIRT2596265	hsa-miR-874	CLIP-seq
MIRT2596266	hsa-miR-938	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004631	Function	Phosphomevalonate kinase activity	IBA
GO:0004631	Function	Phosphomevalonate kinase activity	IDA	8663599, 14680974, 16519518
GO:0004631	Function	Phosphomevalonate kinase activity	IEA
GO:0004631	Function	Phosphomevalonate kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IDA	16519518
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	14729858
GO:0005777	Component	Peroxisome	IDA	17180682
GO:0005829	Component	Cytosol	IDA	14729858, 27052676
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	IBA
GO:0006695	Process	Cholesterol biosynthetic process	IDA	8663599
GO:0006695	Process	Cholesterol biosynthetic process	IEA
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016126	Process	Sterol biosynthetic process	IDA	16519518
GO:0016126	Process	Sterol biosynthetic process	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IBA
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070723	Process	Response to cholesterol	IEP	10191291

MIM	HGNC	e!Ensembl
607622	9141	ENSG00000163344

Q15126

Protein name

Phosphomevalonate kinase (PMKase) (hPMK) (EC 2.7.4.2)

Protein function

Catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to produce mevalonate diphosphate and ADP, a key step in the mevalonic acid mediated biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites. {

PDB

3CH4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04275	P-mevalo_kinase	14 → 124	Phosphomevalonate kinase	Family

Tissue specificity

TISSUE SPECIFICITY: Heart, liver, skeletal muscle, kidney, and pancreas. Lower level in brain, placenta and lung. {ECO:0000269|PubMed:8663599}.

Sequence

MAPLGGAPRLVLLFSGKRKSGKDFVTEALQSRLGADVCAVLRLSGPLKEQYAQEHGLNFQ
RLLDTSTYKEAFRKDMIRWGEEKRQADPGFFCRKIVEGISQPIWLVSDTRRVSDIQWFRE
AYGAVTQTVRVVALEQSRQQRGWVFTPGVDDAESECGLDNFGDFDWVIENHGVEQRLEEQ
LENLIEFIRSRL

Sequence length

192

Interactions

View interactions

	KEGG		Reactome
	Terpenoid backbone biosynthesis Metabolic pathways Peroxisome		Cholesterol biosynthesis Activation of gene expression by SREBF (SREBP)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Linear porokeratosis	Likely pathogenic; Pathogenic	rs373000976, rs140728783, rs2101965598	RCV001849504 RCV001849670 RCV001849672	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PMVK-related disorder	Likely pathogenic; Pathogenic	rs373000976	RCV003399087	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Porokeratosis 1, Mibelli type	Likely pathogenic; Pathogenic	rs373000976, rs745983207, rs879255607	RCV003135955 RCV004576932 RCV004576933	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATORY SYNDROME	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PMVK-associated autoinflammatory disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS 1, MULTIPLE TYPE S	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS OF MIBELLI	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial fibrillation	Pubtator	37581400	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	BEFREE	15544330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of galactokinase	Deficiency Of Galactokinase	BEFREE	15544330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	9647750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Porokeratosis	Porokeratosis	Pubtator	26202976, 27052676, 30942823, 35853659, 37315547	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis	Porokeratosis	BEFREE	28765912		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis	Porokeratosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	ORPHANET_DG	26202976		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	UNIPROT_DG	26202976, 27052676		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	GENOMICS_ENGLAND_DG	27052676		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	BEFREE	28765912		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis of Mibelli	Porokeratosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Porokeratosis, Linear	Porokeratosis	BEFREE	30942823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Porokeratosis, Linear	Porokeratosis	GENOMICS_ENGLAND_DG	30942823		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	38158702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PMVK (phosphomevalonate kinase)