Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MVK contributors: mct - updated : 20-06-2017
HGNC name mevalonate kinase (mevalonic aciduria)
HGNC id 7530
DNA
TYPE functioning gene
STRUCTURE 23.98 kb     11 Exon(s)    1 Copie(s)
10 Kb 5' upstream gene genomic sequence study
motif
text structure a SRE (sterol regulatory element) in the promoter region
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2084 42.5 396 - 1992 1377680
11 splicing 2075 42.5 396 . fibroblasts, lymphocytes 1992 1377680
skipping exon 4
10 splicing 1928 - 344 . fibroblasts . lymphocytes 1992 1377680
  • skipping exon 4, 5
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    Endocrinepancreas    
    Lymphoid/Immunespleen    
    Nervousbrain    
    Reproductivefemale systemuteruscervix  
     male systemprostate   
    Skin/Tegumentskin    
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		N terminal putative ATP binding aminoacid sequence
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Mvk
    Homologene
    FAMILY GHMP kinase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    text
    basic FUNCTION
  • catalyzing an early step in the mevalonate pathway (conversion of murelonate into 5-phosphomevalonate) for the synthesis of isoprenoids and cholesterol
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
  • a structural constituent of membranes and precursor for bile acids and steroid hormones
  • homodimeric enzyme
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • MVK is a LH receptor mRNA binding protein regulating LH receptor activity in ovary
  • binds to the coding region of LHCGR mRNA, suppresses its translation, and the resulting ribonucleoprotein complex is targeted for degradation
  • by inhibiting EIF5A hypusination, FSH reduces the expression of MVK that increases LHCGR mRNA expression by abrogating the inhibitory action of MVK
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MVKD , HIDS , POROK3
    related resource INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS