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FLASH GENE
Symbol RNF135 contributors: mct - updated : 28-11-2014
HGNC name ring finger protein 135
HGNC id 21158
Corresponding disease
NF1DEL neurofibromatosis type 1 (see NF1) caused by microdeletions in 17q11.2
Location 17q11.2      Physical location : 29.297.955 - 29.326.928
Synonym name
  • RIG-I E3 ubiquitin ligase
  • Synonym symbol(s) L13, MGC13061, MMFD, REUL, Riplet
    DNA
    TYPE functioning gene
    STRUCTURE 41.62 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    regionally located in a chromosomal region frequently deleted in patients with neurofibromatosis
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 splicing 2195 47 432 - 2001 1146869
    4 splicing 2032 22 210 - 2001 1146869
  • lacking an exon within the coding region compared to variant 1 which causes a translation frameshift
  • 6 - 2254 - 285 - 2001 1146869
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Endocrineparathyroid   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal RING finger domain,
  • a RING finger domain, involved in protein-protein and protein-DNA interactions
  • a B30.2/SPRY domain at the C terminus, and PRY motifs
  • HOMOLOGY
    interspecies homolog to rattus Rnf135 (63.7 pc)
    homolog to murine Rnf135 (61.2 pc)
    Homologene
    FAMILY
  • zinc finger family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • acting as an ubiquitin ligase
  • RNF135 is a novel factor of the DDX58 pathway involved in the evoking of human innate immunity against RNA virus infection, and activates DDX58 through ubiquitination of its C-terminal region
  • is an E3 ubiquitin ligase of DDX58 and specifically stimulates DDX58-mediated innate antiviral activity.
  • is essential for regulating DDX58-mediated innate immune response against RNA virus infection
  • involvement of RNF135 and ADAP2 in the increased risk of malignancy observed in NF1-microdeleted patients
  • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • interacting with DDX58
  • RNF135 was dispensable for DDX58 RNA binding activity but required for TRIM25 to activate DDX58
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NF1DEL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in tumor Schwann cells from malignant peripheral nerve sheath tumors (MPNSTs) biopsies and in MPNST cell line
    Susceptibility
    Variant & Polymorphism
    Candidate gene overgrowth
    Marker
    Therapy target
    ANIMAL & CELL MODELS