• Gene id: 10654

Gene Summary

• Gene Symbol: PMVK   Gene   UCSC   Ensembl
• Aliases: HUMPMKI, PMK, PMKA, PMKASE, POROK1
• Gene name: phosphomevalonate kinase
• Alternate names: phosphomevalonate kinase, testis tissue sperm-binding protein Li 95mP,
• Gene location: 1q21.3 (157743711: 157760708)     Exons: 4     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 607622

Protein Summary

• Protein general information: Q15126  
  • Name: Phosphomevalonate kinase (PMKase) (hPMK) (EC 2.7.4.2)
  • Length: 192  
  • Mass: 21995
  • Tissue specificity: Heart, liver, skeletal muscle, kidney, and pancreas. Lower level in brain, placenta and lung. {ECO
• Sequence:

  MAPLGGAPRLVLLFSGKRKSGKDFVTEALQSRLGADVCAVLRLSGPLKEQYAQEHGLNFQRLLDTSTYKEAFRKD
  MIRWGEEKRQADPGFFCRKIVEGISQPIWLVSDTRRVSDIQWFREAYGAVTQTVRVVALEQSRQQRGWVFTPGVD
  DAESECGLDNFGDFDWVIENHGVEQRLEEQLENLIEFIRSRL

• Structural information:
  • Interpro: IPR027417  IPR005919  
  • PDB: 3CH4
  • PDBsum: 3CH4
  • STRING: ENSP00000357452
• Other Databases: GeneCards:  PMVK  Malacards:  PMVK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005777	peroxisome	IBA	cellular component
GO:0004631	phosphomevalonate kinase activity	IBA	molecular function
GO:0006695	cholesterol biosynthetic process	IBA	biological process
GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	IBA	biological process
GO:0004631	phosphomevalonate kinase activity	IEA	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004631	phosphomevalonate kinase activity	IEA	molecular function
GO:0004631	phosphomevalonate kinase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA	biological process
GO:0008299	isoprenoid biosynthetic process	IEA	biological process
GO:0004631	phosphomevalonate kinase activity	IEA	molecular function
GO:0004631	phosphomevalonate kinase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA	biological process
GO:0004631	phosphomevalonate kinase activity	IDA	molecular function
GO:0004631	phosphomevalonate kinase activity	IDA	molecular function
GO:0006695	cholesterol biosynthetic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0004631	phosphomevalonate kinase activity	IDA	molecular function
GO:0016126	sterol biosynthetic process	IDA	biological process
GO:0005524	ATP binding	IDA	molecular function
GO:0005777	peroxisome	IDA	cellular component
GO:0005777	peroxisome	IDA	NOT|cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070723	response to cholesterol	IEP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04146	Peroxisome
hsa00900	Terpenoid backbone biosynthesis

Diseases

Associated diseases	References
Porokeratosis	KEGG:H01933
Porokeratosis	KEGG:H01933
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)