• Gene id: 4598

Gene Summary

• Gene Symbol: MVK   Gene   UCSC   Ensembl
• Aliases: LRBP, MK, MVLK, POROK3
• Gene name: mevalonate kinase
• Alternate names: mevalonate kinase, LH receptor mRNA-binding protein, mevalonate kinase 1,
• Gene location: 12q24.11 (109573460: 109598124)     Exons: 13     NC_000012.12
• Gene summary(Entrez): This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic a
• OMIM: 160720

Protein Summary

• Protein general information: Q03426  
  • Name: Mevalonate kinase (MK) (EC 2.7.1.36)
  • Length: 396  
  • Mass: 42451
• Sequence:

  MLSEVLLVSAPGKVILHGEHAVVHGKVALAVSLNLRTFLRLQPHSNGKVDLSLPNIGIKRAWDVARLQSLDTSFL
  EQGDVTTPTSEQVEKLKEVAGLPDDCAVTERLAVLAFLYLYLSICRKQRALPSLDIVVWSELPPGAGLGSSAAYS
  VCLAAALLTVCEEIPNPLKDGDCVNRWTKEDLELINKWAFQGERMIHGNPSGVDNAVSTWGGALRYHQGKISSLK
  RSPALQILLTNTKVPRNTRALVAGVRNRLLKFPEIVAPLLTSIDAISLECERVLGEMGEAPAPEQYLVLEELIDM
  NQHHLNALGVGHASLDQLCQVTRARGLHSKLTGAGGGGCGITLLKPGLEQPEVEATKQALTSCGFDCLETSIGAP
  GVSIHSATSLDSRVQQALDGL

• Structural information:
  • Interpro: IPR013750  IPR036554  IPR006204  IPR006203  IPR006205   IPR020568  IPR014721  
  • Prosite: PS00627
  • PDB: 2R3V
  • PDBsum: 2R3V
  • STRING: ENSP00000443551
• Other Databases: GeneCards:  MVK  Malacards:  MVK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006695	cholesterol biosynthetic process	IBA	biological process
GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	IBA	biological process
GO:0004496	mevalonate kinase activity	IBA	molecular function
GO:0004496	mevalonate kinase activity	IDA	molecular function
GO:0004496	mevalonate kinase activity	IDA	molecular function
GO:0042802	identical protein binding	IDA	molecular function
GO:0000287	magnesium ion binding	ISS	molecular function
GO:0005524	ATP binding	ISS	molecular function
GO:0005777	peroxisome	ISS	cellular component
GO:0008299	isoprenoid biosynthetic process	IEA	biological process
GO:0004496	mevalonate kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
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:0046872	metal ion binding	IEA	molecular function
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016310	phosphorylation	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0004496	mevalonate kinase activity	IEA	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:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050728	negative regulation of inflammatory response	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA	biological process
GO:0008299	isoprenoid biosynthetic process	IDA	biological process
GO:0006695	cholesterol biosynthetic process	IDA	biological process
GO:0005777	peroxisome	IDA	NOT|cellular component
GO:0004496	mevalonate kinase activity	IDA	molecular function
GO:0008299	isoprenoid biosynthetic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0004496	mevalonate kinase activity	IDA	molecular function
GO:0004496	mevalonate kinase activity	IDA	molecular function
GO:0004496	mevalonate kinase activity	IMP	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
Porokeratosis	KEGG:H01933
Mevalonate kinase deficiency	KEGG:H00206
Porokeratosis	KEGG:H01933
Mevalonate kinase deficiency	KEGG:H00206
Lipid metabolism disorder	PMID:1377680
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq