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FLASH GENE
Symbol RFFL contributors: mct - updated : 02-03-2012
HGNC name ring finger and FYVE-like domain containing E3 ubiquitin protein ligase
HGNC id 24821
Location 17q12      Physical location : 33.336.130 - 33.416.294
Synonym name
  • E3 ubiquitin-protein ligase rififylin
  • FYVE-RING finger protein SAKURA
  • RING finger protein 189
  • caspase regulator CARP2
  • Synonym symbol(s) CARP-2, CARP2, FRING, RIFIFYLIN, RNF189, RNF34L
    DNA
    TYPE functioning gene
    STRUCTURE 80.22 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 4137 - 363 - 2008 18450452
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal domain, which shows similarities with the phosphatidylinositol-3-phosphate-binding FYVE finger, is critical for the recruitment of RFFL to recycling endocytic membranes and for the inhibition of recycling
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • localized to endocytic vesicles, where it interacted with internalized TNF-receptor complex, resulting in RIP ubiquitination and degradation
  • basic FUNCTION
  • with RNF34, stabilize MDM2 by inhibiting MDM2 self-ubiquitination
  • with RNF34, enhance TP53 turnover by degrading YWHAS and stabilizing MDM2
  • negative regulator of TNF-induced NF-kappaB activation
  • acts at the level of endocytic vesicles to limit the intensity of TNF-induced NF-kappaB activation by the regulated elimination of a necessary signaling component within the receptor complex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • REFFL and RNF34 together with MDM2 enhance TP53 degradation, thereby inhibiting TP53-mediated cell death
  • target 14-3-3sigma (YWHAS) for degradation, leading to MDM2 stabilization
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    delay endocytic recycling, and is a novel physiological mechanism potentially underlying the development of hypertension
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS