Version 5.4
Homo sapiens Gene: MVK
Summary
InnateDB Gene IDBG-56280.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MVK
Gene Name mevalonate kinase
Synonyms LRBP; MK; MVLK; POROK3
Species Homo sapiens
Ensembl Gene ENSG00000110921
Encoded Proteins
IDBP-56282
mevalonate kinase
IDBP-245068
mevalonate kinase
IDBP-382982
mevalonate kinase
IDBP-602500
mevalonate kinase
IDBP-596461
mevalonate kinase
IDBP-601377
mevalonate kinase
IDBP-599351
mevalonate kinase
IDBP-592575
mevalonate kinase
IDBP-584820
mevalonate kinase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 12:109573255-109598117
Strand Forward strand
Band q24.11
Transcripts
ENST00000228510 ENSP00000228510
ENST00000392727 ENSP00000376487
ENST00000447878 ENSP00000415555
ENST00000539335 ENSP00000440379
ENST00000546277 ENSP00000438153
ENST00000535044
ENST00000539696 ENSP00000439134
ENST00000537237 ENSP00000445382
ENST00000545774 ENSP00000443978
ENST00000545516
ENST00000540353
ENST00000539575 ENSP00000443551
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
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:0044281 small molecule metabolic process
GO:0050728 negative regulation of inflammatory response
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000041939
View Gene Order
ENSBTAG00000005183
Not yet available
Pathways
NETPATH
REACTOME
REACT_147904
Activation of gene expression by SREBF (SREBP) pathway
REACT_147797
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
REACT_9405
Cholesterol biosynthesis pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_111217
Metabolism pathway
KEGG
hsa00900
Terpenoid backbone biosynthesis pathway
hsa04146
Peroxisome pathway
INOH
INOH website
Steroids metabolism pathway
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.130607
RefSeq NM_000431 NM_001114185 NM_001301182 XM_005253883 XM_005253884
HUGO
OMIM
CCDS CCDS73522 CCDS9132
HPRD 02015
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca