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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10654
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphomevalonate kinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PMVK
Synonyms (NCBI Gene) Gene synonyms aliases	HUMPMKI, PMK, PMKA, PMKASE, POROK1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	POROK1
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004631	Function	Phosphomevalonate kinase activity	IBA	21873635
GO:0004631	Function	Phosphomevalonate kinase activity	IDA	8663599, 14680974, 16519518
GO:0004631	Function	Phosphomevalonate kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IDA	16519518
GO:0005777	Component	Peroxisome	IDA	17180682
GO:0005777	Component	Peroxisome	IDA	14729858
GO:0005829	Component	Cytosol	IDA	14729858, 27052676
GO:0005829	Component	Cytosol	TAS
GO:0006695	Process	Cholesterol biosynthetic process	IBA	21873635
GO:0006695	Process	Cholesterol biosynthetic process	IDA	8663599
GO:0006695	Process	Cholesterol biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016126	Process	Sterol biosynthetic process	IDA	16519518
GO:0016310	Process	Phosphorylation	IEA
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IBA	21873635
GO:0019287	Process	Isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA
GO:0045540	Process	Regulation of cholesterol biosynthetic process	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070723	Process	Response to cholesterol	IEP	10191291

MIM	HGNC	e!Ensembl
607622	9141	ENSG00000163344

Protein

UniProt ID

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)

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Porokeratosis	Porokeratosis, Porokeratosis, Linear, Porokeratosis of Mibelli	rs397514570, rs104895301, rs104895373, rs397514571, rs398122910, rs398122911, rs606231251, rs863225241, rs769193201, rs104895362, rs761991070, rs755948940	30942823, 27052676, 26202976

Show/Hide Unknown Diseases (6)

Disease term	Disease name	Evidence	Source
Unknown
Schizophrenia	Schizophrenia		GWAS
Atrial Fibrillation	Atrial Fibrillation		GWAS
Bipolar Disorder	Bipolar Disorder		GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.	GWAS, CBGDA
Parkinson disease	Parkinson disease		GWAS
Dyslexia	Dyslexia		GWAS

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
Atrial Fibrillation	Inhibit	37581400
Nevus Sebaceous of Jadassohn	Associate	35853659
Porokeratosis	Associate	26202976, 27052676, 30942823, 35853659, 37315547
Pyruvate Kinase Deficiency of Red Cells	Associate	27052676
Trigeminal Neuralgia	Associate	38158702

PMVK (phosphomevalonate kinase)