InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MVK

Summary

InnateDB Protein

IDBP-56282.6

Last Modified

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

Gene Symbol

MVK

Protein Name

mevalonate kinase

Synonyms

LRBP; MK; MVLK; POROK3;

Species

Homo sapiens

Ensembl Protein

ENSP00000228510

InnateDB Gene

IDBG-56280 (MVK)

Protein Structure

UniProt Annotation

Function

May be a regulatory site in cholesterol biosynthetic pathway.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:14730012}.

Disease Associations

Mevalonic aciduria (MEVA) [MIM:610377]: Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. {ECO:0000269PubMed:10401001, ECO:0000269PubMed:10417275, ECO:0000269PubMed:11313768, ECO:0000269PubMed:11313769, ECO:0000269PubMed:1377680}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]: Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. {ECO:0000269PubMed:10369261, ECO:0000269PubMed:10369262, ECO:0000269PubMed:11313768, ECO:0000269PubMed:11313769, ECO:0000269PubMed:15536479}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001174 Galactokinase/homoserine kinase
IPR006204 GHMP kinase N-terminal domain
IPR006205 Mevalonate kinase
IPR006206 Mevalonate/galactokinase
IPR013750 GHMP kinase, C-terminal domain
IPR020568 Ribosomal protein S5 domain 2-type fold

PFAM

PF00288
PF08544

PRINTS

PR00960
PR00959

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q03426