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FLASH GENE
Symbol RNF40 contributors: mct - updated : 18-10-2012
HGNC name ring finger protein 40
HGNC id 16867
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  moderately
Hearing/Equilibriumear   moderately
Lymphoid/Immunethymus   moderately
Nervousbrain   moderately
Reproductivefemale systemuterus  moderately
 male systemtestis  highly
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion lymph
at STAGE
physiological period fetal
Text
  • umbilical cord
  • 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