MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001989

UniProt Annotations

Entry Information
Gene Namemevalonate kinase
Protein EntryKIME_HUMAN
UniProt IDQ03426
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + (R)-mevalonate = ADP + (R)-5- phosphomevalonate.
DiseaseHyperimmunoglobulinemia 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:0000269|PubMed:10369261, ECO:0000269|PubMed:10369262, ECO:0000269|PubMed:11313768, ECO:0000269|PubMed:11313769, ECO:0000269|PubMed:15536479}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMevalonic 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:0000269|PubMed:10401001, ECO:0000269|PubMed:10417275, ECO:0000269|PubMed:11313768, ECO:0000269|PubMed:11313769, ECO:0000269|PubMed:1377680}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationFarnesyl- and geranyl-pyrophosphates are competitive inhibitors.
FunctionMay be a regulatory site in cholesterol biosynthetic pathway.
InteractionSelf; NbExp=2; IntAct=EBI-740630, EBI-740630;
PathwayIsoprenoid biosynthesis; isopentenyl diphosphate biosynthesis via mevalonate pathway; isopentenyl diphosphate from (R)-mevalonate: step 1/3.
Sequence CautionSequence=CAA53059.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the GHMP kinase family. Mevalonate kinase subfamily. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:14730012}.
SubunitHomodimer.
Web ResourceName=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=3";
  logo