InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: BT.26959

Summary

InnateDB Gene

IDBG-635086.3

Last Modified

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

Gene Symbol

BT.26959

Gene Name

mevalonate kinase

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000005183

Encoded Proteins

IDBP-686903

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 17:65863712-65882658

Strand

Reverse strand

Band

Transcripts

ENSBTAT00000006828

ENSBTAP00000006828

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 3 interaction(s) predicted by orthology.

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0004496	mevalonate kinase activity
GO:0005524	ATP binding
GO:0016301	kinase activity
GO:0016740	transferase activity
GO:0016773	phosphotransferase activity, alcohol group as acceptor
GO:0042802	identical protein binding

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0008152	metabolic process
GO:0008299	isoprenoid biosynthetic process
GO:0016310	phosphorylation
GO:0050728	negative regulation of inflammatory response