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FLASH GENE
Symbol RNF40 contributors: mct - updated : 18-10-2012
HGNC name ring finger protein 40
HGNC id 16867
PROTEIN
PHYSICAL PROPERTIES basic
STRUCTURE
motifs/domains
  • ring finger domain
  • zinc finger domain conserved pRb-binding motif LXCXE
  • basic leucine zipper (bZIP) domain
  • conjugated MetalloP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to rattus Rnf40 (92.6pc)
    ortholog to murine Rnf40 (92.4pc)
    Homologene
    FAMILY
  • Rb associated protein family
  • ring finger protein family
  • BRE1 family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • acting as an E3 ubiquitin ligase protein
  • mediating monoubiquitination of Lys-120 of histone H2B
  • playing a central role in histone code and gene regulation
  • required for transcriptional activation of Hox genes
  • CELLULAR PROCESS nucleotide, transcription, regulation
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    text
  • transcription regulation and/or transcription processing
  • PATHWAY
    metabolism
    signaling
  • third step of ubiquitin conjugation
  • a component
  • forming a ubiquitin ligase complex in cooperation with the E2 enzyme UBE2E1/UBCH6
  • component of the RNF20/40 complex at least composed of 2 copies of RNF20/BRE1A, 2 copies of RNF40/BRE1B and UBE2E1/UBCH6
  • INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • RB1
  • targeting UBE2L6 and STX1A for degradation by the ubiquitin proteasome pathway
  • UBE2E1, RNF20/40, and the PAF1 complex are recruited to transcriptionally active genes
  • WAC interacts with RNF20/40 through its C-terminal coiled-coil region and promotes RNF20/40 s E3 ligase activity for HIST1H2BB ubiquitination
  • RNF20 and RNF40 bind to discrete, but closely located, residues on CDC73
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    deficiency in histone H2B ubiquitin ligase RNF20/RNF40) leads to replication stress and chromosomal instability
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deficiency in murine Rnf20/Rnf40 function associated with increased sensitivity to crosslinking drugs and defective formation of Rad51 foci in mouse cells, suggesting a defect in homologous recombinational repair analogous to that seen in Saccharomyces