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FLASH GENE
Symbol MEFV contributors: mct/npt - updated : 11-07-2018
HGNC name Mediterranean fever
HGNC id 6998
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal RING zinc finger domain (PYRIN domain )
  • followed by one B box and an alpha-helical coiled-coil domain,
  • the so-called tripartite motif (TRIM) characteristic of the B box family of proteins and mediating the formation of multimeric protein complexes
  • one DAPIN domain
  • and a B30.2-like (RFP) globular domain at the C terminus
  • a PRYSPRY domain mediating diverse functions by high-affinity binding to their target through a canonical binding interface formed by six antibody-like VLs
    • HOMOLOGY
    interspecies homolog to murine Mefv
    intraspecies homolog to Ro autoantigen ret finger proteins and butyrophilin (belonging to B boxfamily)
    Homologene
    FAMILY B box family, RBCC (TRIM family)
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    basic FUNCTION
  • playing a role of inflammatory response and involved in protein-protein interactions
  • probably controls the inflammatory response in myelomonocytic cells at the level of the cytoskeleton
    • organization
  • thought to be involved in regulating innate immunity (Grandemange 2009)
  • modulates the apoptotic response to oxidative stress mediated by SIVA1 (Balci-Peynircioglu 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PSTPIP1 (binding correlated with PSTPIP1 phosphorylation status)
  • also interacts with SIVA1, a pro-apoptotic protein first identified for its interaction with the cytosolic tail of CD27, a TNF family receptor (interaction involves the C-terminal B30.2/rfp/SRPY domain of pyrin and exon 1 of SIVA1) (Balci-Peynircioglu 2008)
  • MEFV and TRIM21 directly bind their respective cargo and recruit autophagic machinery to execute degradation, and MEFV targets the inflammasome components, including NLRP3, NLRP1, and pro-caspase 1, for autophagic degradation
    • cell & other
    REGULATION
    Other first auto-inflammatory gene regulated by nonsense-mediated decay (NMD) pathways in both a cell- and transcript-specific manner (Grandemange 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) MEFV
    related resource INFEVERS: The repertory of Familial Mediterranean Fever (FMF) and Hereditary Inflammatory Disorders Mutations
    Familial Mediterranean Fever at GeneDis
    Susceptibility
  • to Behcet's disease
  • to Fibromyalgia syndrome (FMS)
  • to systemic onset juvenile idiopathic arthritis
    • Variant & Polymorphism other
  • increasing the risk of Behcet's disease
  • heterozygous for rare missense variants of this gene may be predisposed to FMS, possibly triggered by environmental factors (Feng 2009)
  • a significantly higher frequency of MEFV mutations systemic onset juvenile idiopathic arthritis (Ayaz 2009)
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunology  
    the SIVA1-MEFV interaction may be a potential target for future therapeutic strategies
    ANIMAL & CELL MODELS