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FLASH GENE
Symbol RNF40 contributors: mct - updated : 18-10-2012
HGNC name ring finger protein 40
HGNC id 16867
Location 16p11.2      Physical location : 30.773.629 - 30.786.536
Synonym name
  • staring protein
  • 95KDa retinoblastoma protein binding protein
  • cDNA sequence,expressed in brain,>100kDa,related to C elegans 97,1 kDa protein
  • Synonym symbol(s) RBP95, KIAA0661, BRE1B, STARING, BRE1B, DKFZp686K191, MGC13051,
    EC.number 6.3.2.-
    DNA
    TYPE functioning gene
    STRUCTURE 14.70 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC390689 16 similar to carbonic anhydrase VA, mitochondrial precursor; carbonic anhydrase V, mitochondrial; carbonic dehydratase CD2BP2 16p12.1 CD2 antigen (cytoplasmic tail) binding protein 2 DKFZP434P1750 16p12.1 DKFZP434P1750 protein HUMMLC2B 16p12.1 myosin light chain 2 SEPT1 16q11.1 septin 1 FLJ31751 16p12.1 hypothetical protein FLJ31751 LOC51333 16p12.1 mesenchymal stem cell protein DSC43 XTP3TPA 16p12.1 XTP3-transactivated protein A SEPHS2 16p12.1 selenophosphate synthetase 2 ITGAL 16p11.2 integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) FLJ23436 16p11.2 hypothetical protein FLJ23436 MGC2474 16p11.2 hypothetical protein MGC2474 LOC388244 16 LOC388244 MGC13138 16p11.2 hypothetical protein MGC13138 LOC146542 16p11.2 similar to hypothetical protein MGC13138 FLJ32130 16p11.2 hypothetical protein FLJ32130 LOC115509 16p11.2 hypothetical protein BC014000 MGC3121 16p11.2 hypothetical protein MGC3121 FBS1 16p11.2 fibrosin 1 LOC388245 16 LOC388245 SRCAP 16p11.2 LOC388245 PHKG2 16p11.2-p12.1 phosphorylase kinase, gamma 2 (testis) LOC388246 16 LOC388246 RNF40 16p11.2-p11.1 ring finger protein 40 KIAA0326 16p11 ring finger protein 40 LOC390690 16 similar to Protein C20orf27 BCL7C 16p11 B-cell CLL/lymphoma 7C CTF1 16p11.2-p11.1 cardiotrophin 1 LOC283932 16p11.2 hypothetical protein LOC283932 MGC13024 16p11.2 hypothetical protein MGC13024 KIAA0339 16p11 hypothetical protein MGC13024 HSD3B7 16p11.2-12 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 STX1B2 16p12-p11 syntaxin 1B2 STX4A 16p13.13-p12.3 syntaxin 4A (placental) FLJ13479 16p11.2 hypothetical protein FLJ13479 KIAA0296 16p13.13-p13.2 hypothetical protein FLJ13479 IMAGE3455200 BCKDK 16p11.2 branched chain alpha-ketoacid dehydrogenase kinase MYST1 16p11.2 MYST histone acetyltransferase 1 PRSS8 16p11.2 protease, serine, 8 (prostasin) FLJ90661 16p11.2 hypothetical protein FLJ90661 LOC390691 16 similar to Filamin B (FLN-B) (Beta-filamin) (Actin-binding like protein) (Thyroid autoantigen) (Truncated actin-binding protein) (Truncated ABP) (ABP-280 homolog) (ABP-278) (Filamin 3) (Filamin homolog 1) (Fh1) FUS 16p11.2 fusion, derived from t(12;16) malignant liposarcoma ASC 16p12-p11.2 fusion, derived from t(12;16) malignant liposarcoma
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 6022 113 1001 - 2002 12121982
    20 splicing 6019 94 838 - 2002 12121982
    18 - 5722 - 901 - 2002 12121982
    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