• Gene id: 4597

Gene Summary

• Gene Symbol: MVD   Gene   UCSC   Ensembl
• Aliases: FP17780, MDDase, MPD, POROK7
• Gene name: mevalonate diphosphate decarboxylase
• Alternate names: diphosphomevalonate decarboxylase, mevalonate (diphospho) decarboxylase, mevalonate pyrophosphate decarboxylase,
• Gene location: 16q24.2 (88663152: 88651934)     Exons: 13     NC_000016.10
• Gene summary(Entrez): The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing A
• OMIM: 608303

Protein Summary

• Protein general information: P53602  
  • Name: Diphosphomevalonate decarboxylase (EC 4.1.1.33) (Mevalonate (diphospho)decarboxylase) (MDDase) (Mevalonate pyrophosphate decarboxylase)
  • Length: 400  
  • Mass: 43405
  • Tissue specificity: Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta. {ECO
• Sequence:

  MASEKPLAAVTCTAPVNIAVIKYWGKRDEELVLPINSSLSVTLHQDQLKTTTTAVISKDFTEDRIWLNGREEDVG
  QPRLQACLREIRCLARKRRNSRDGDPLPSSLSCKVHVASVNNFPTAAGLASSAAGYACLAYTLARVYGVESDLSE
  VARRGSGSACRSLYGGFVEWQMGEQADGKDSIARQVAPESHWPELRVLILVVSAEKKLTGSTVGMRASVETSPLL
  RFRAESVVPARMAEMARCIRERDFPSFAQLTMKDSNQFHATCLDTFPPISYLNAISWRIIHLVHRFNAHHGDTKV
  AYTFDAGPNAVIFTLDDTVAEFVAAVWHGFPPGSNGDTFLKGLQVRPAPLSAELQAALAMEPTPGGVKYIIVTQV
  GPGPQILDDPCAHLLGPDGLPKPAA

• Structural information:
  • Interpro: IPR036554  IPR006204  IPR005935  IPR029765  IPR041431   IPR020568  IPR014721  
  • PDB: 3D4J
  • PDBsum: 3D4J
  • STRING: ENSP00000301012
• Other Databases: GeneCards:  MVD  Malacards:  MVD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004163	diphosphomevalonate decarboxylase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	IBA	biological process
GO:0004163	diphosphomevalonate decarboxylase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0008299	isoprenoid biosynthetic process	IEA	biological process
GO:0016831	carboxy-lyase activity	IEA	molecular function
GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0004163	diphosphomevalonate decarboxylase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006489	dolichyl diphosphate biosynthetic process	TAS	biological process
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005777	peroxisome	IDA	NOT|cellular component
GO:0008299	isoprenoid biosynthetic process	IDA	biological process
GO:0008299	isoprenoid biosynthetic process	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0004163	diphosphomevalonate decarboxylase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0004163	diphosphomevalonate decarboxylase activity	IDA	molecular function
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0006695	cholesterol biosynthetic process	NAS	biological process
GO:0030544	Hsp70 protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00900	Terpenoid backbone biosynthesis

Diseases

Associated diseases	References
Porokeratosis	KEGG:H01933
Porokeratosis	KEGG:H01933
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray