InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Mvk

Summary

InnateDB Gene

IDBG-192640.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Mvk

Gene Name

mevalonate kinase

Synonyms

2310010A05Rik; AI256848; AI414037; MK

Species

Mus musculus

Ensembl Gene

ENSMUSG00000041939

Encoded Proteins

IDBP-192642

mevalonate kinase

IDBP-256421

mevalonate kinase

IDBP-534461

mevalonate kinase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000110921:
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 aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Two transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
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 aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 5:114444269-114460591

Strand

Forward strand

Band

Transcripts

ENSMUST00000043760	ENSMUSP00000036971
ENSMUST00000112239	ENSMUSP00000107858
ENSMUST00000137167
ENSMUST00000125120
ENSMUST00000124260
ENSMUST00000125650	ENSMUSP00000114611
ENSMUST00000139420

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004496	mevalonate kinase activity
GO:0005524	ATP binding
GO:0042802	identical protein binding

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0008299	isoprenoid biosynthetic process
GO:0016310	phosphorylation
GO:0019287	isopentenyl diphosphate biosynthetic process, mevalonate pathway
GO:0050728	negative regulation of inflammatory response