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RNF168 Gene

protein-coding   GIFtS: 56
GCID: GC03M196195

Ring Finger Protein 168, E3 Ubiquitin Protein Ligase

(Previous name: ring finger protein 168)
  See RNF168-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ring Finger Protein 168, E3 Ubiquitin Protein Ligase1 2
RING Finger Protein 1681 3
hRNF1682 3
E3 Ubiquitin-Protein Ligase RNF1682
EC 6.3.2.-3
EC 6.3.28

External Ids:    HGNC: 266611   Entrez Gene: 1659182   Ensembl: ENSG000001639617   OMIM: 6126885   UniProtKB: Q8IYW53   

Export aliases for RNF168 gene to outside databases

Previous GC identifers: GC03M197687 GC03M193493


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RNF168 Gene:
This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of
functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The
protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome.
(provided by RefSeq, Sep 2011)

GeneCards Summary for RNF168 Gene:
RNF168 (ring finger protein 168, E3 ubiquitin protein ligase) is a protein-coding gene. Diseases associated with RNF168 include riddle syndrome. GO annotations related to this gene include chromatin binding and histone binding.

UniProtKB/Swiss-Prot: RN168_HUMAN, Q8IYW5
Function: E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts
with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at
double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A
ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate
ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and
BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of 'Lys-63'-linked
ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA)
complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent
transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription
and repair intermediates. Also involved in class switch recombination in immune system, via its role in
regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in
collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage
sites. Not able to initiate 'Lys-63'-linked ubiquitination in vitro; possibly due to partial occlusion of the
UBE2N/UBC13-binding region. Catalyzes monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A
(H2AK13Ub and H2AK15Ub, respectively)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RNF168 gene promoter:
         AML1a   NF-YA   NF-YB   CBF-A   CBF-B   FOXJ2 (long isoform)   FOXJ2   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNF168 promoter sequence
   Search Chromatin IP Primers for RNF168

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNF168


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q29   Ensembl cytogenetic band:  3q29   HGNC cytogenetic band: 3q29

RNF168 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNF168 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M196195:  view genomic region     (about GC identifiers)

Start:
196,195,654 bp from pter      End:
196,230,639 bp from pter
Size:
34,986 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RN168_HUMAN, Q8IYW5 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase RNF168  
Size: 571 amino acids; 65020 Da
Subunit: Monomer. Interacts with UBE2N/UBC13
Caution: According to a well-established model, RNF168 cannot initiate H2A 'Lys-63'-linked ubiquitination and is
recruited following RNF8-dependent histone ubiquitination to amplify H2A 'Lys-63'-linked ubiquitination
(PubMed:19500350, PubMed:19203578 and PubMed:19203579). However, other data suggest that RNF168 is the priming
ubiquitin ligase by mediating monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub
and H2AK15Ub respectively) (PubMed:22980979). These data suggest that RNF168 might be recruited to DSBs sites in
a RNF8-dependent manner by binding to non-histone proteins ubiquitinated via 'Lys-63'-linked and initiates
monoubiquitination of H2A, which is then amplified by RNF8 (PubMed:22980979). Additional evidences are however
required to confirm these data
Sequence caution: Sequence=BAC04060.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for RNF168:
3L11 (3D)        4GB0 (3D)    
Secondary accessions: Q8NA67 Q96NS4

Explore the universe of human proteins at neXtProt for RNF168: NX_Q8IYW5

Explore proteomics data for RNF168 at MOPED

Post-translational modifications: 

  • Sumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs)1
  • Ubiquitinated1
  • Ubiquitination2 at Lys158, Lys227, Lys232, Lys334, Lys341, Lys389, Lys399, Lys406, Lys409, Lys441,
                                 Lys455, Lys468, Lys485, Lys524, Lys528, Lys548, Lys560
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RNF168 (Q8IYW5) (see all 5)
     EPVTLPC  RQKGSPD  PCFSAKRRK  QDRLLALQLQ 


    See RNF168 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689830.2  
    ENSEMBL proteins: 
     ENSP00000320898   ENSP00000396712  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    2 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q8IYW5

    ProtoNet protein and cluster: Q8IYW5

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: RN168_HUMAN, Q8IYW5
    Domain: The MIU motif (motif interacting with ubiquitin) mediates the interaction with both 'Lys-48'- and
    'Lys-63'-linked ubiquitin chains (PubMed:19500350). The UMI motif mediates interaction with ubiquitin with a
    preference for 'Lys-63'-linked ubiquitin (PubMed:21041483). The specificity for different types of ubiquitin is
    mediated by juxtaposition of ubiquitin-binding motifs (MIU and UMI motifs) with LR motifs (LRMs)
    (PubMed:22742833)
    Similarity: Belongs to the RNF168 family
    Similarity: Contains 1 RING-type zinc finger


    Find genes that share domains with RNF168           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RN168_HUMAN, Q8IYW5
    Function: E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts
    with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at
    double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A
    ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate
    ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and
    BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of 'Lys-63'-linked
    ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA)
    complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent
    transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription
    and repair intermediates. Also involved in class switch recombination in immune system, via its role in
    regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in
    collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage
    sites. Not able to initiate 'Lys-63'-linked ubiquitination in vitro; possibly due to partial occlusion of the
    UBE2N/UBC13-binding region. Catalyzes monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A
    (H2AK13Ub and H2AK15Ub, respectively)

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA19203578
    GO:0004842ubiquitin-protein ligase activity IDA19203578
    GO:0005515protein binding IPI19203578
    GO:0008270zinc ion binding IEA--
    GO:0031491nucleosome binding IDA--
         
    Find genes that share ontologies with RNF168           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RNF168:
     Decreased homologous recombina 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rnf168):
     cellular  endocrine/exocrine gland  hematopoietic system  immune system  reproductive system 
     tumorigenesis 

    Find genes that share phenotypes with RNF168           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RNF168
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RNF168
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RNF168

    miRNA
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    miRTarBase miRNAs that target RNF168:
    hsa-mir-92b-3p (MIRT040572)

    Block miRNA regulation of human, mouse, rat RNF168 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate RNF168:
    hsa-miR-10b* hsa-miR-3910 hsa-miR-28-3p hsa-miR-922 hsa-miR-513a-3p hsa-miR-3662 hsa-miR-548s
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    Addgene plasmids for RNF168 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RN168_HUMAN, Q8IYW5: Nucleus. Note=Localizes to double-strand breaks (DSBs) sites of DNA damage
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IDA19203578
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0035861site of double-strand break IDA19500350

    Find genes that share ontologies with RNF168           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: RN168_HUMAN, Q8IYW5
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RNF168: 

              DNA Damage Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for RNF168

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for RNF168 (Q8IYW51, 2, 3 ENSP000003208984) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2NP610881, 3, ENSP000003161764EBI-914207,EBI-1052908 I2D: score=2 STRING: ENSP00000316176
    LAPTM5Q135712, 3MINT-62180 I2D: score=3 
    RNF11Q9Y3C52, 3MINT-60885 I2D: score=3 
    HIST2H2AA3Q6FI133, ENSP000003581584I2D: score=1 STRING: ENSP00000358158
    H2AFXP161043, ENSP000003643104I2D: score=2 STRING: ENSP00000364310
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006302double-strand break repair IDA19203578
    GO:0006511ubiquitin-dependent protein catabolic process IDA--
    GO:0006974cellular response to DNA damage stimulus IDA19500350
    GO:0010212response to ionizing radiation IDA19203578
    GO:0016567protein ubiquitination IDA--

    Find genes that share ontologies with RNF168           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RNF168 (RN168)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RNF168 gene: 
    NM_152617.3  

    Unigene Cluster for RNF168:

    Ring finger protein 168, E3 ubiquitin protein ligase
    Hs.250648  [show with all ESTs]
    Unigene Representative Sequence: NM_152617
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318037(uc003fwq.3 uc010iah.3) ENST00000437070
    miRNA
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    hsa-miR-10b* hsa-miR-3910 hsa-miR-28-3p hsa-miR-922 hsa-miR-513a-3p hsa-miR-3662 hsa-miR-548s
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      QuantiFast Probe-based Assays in human, mouse, rat RNF168

    Additional mRNA sequence: 

    AK054732.1 AK093113.1 AK097068.1 BC029433.1 BC033791.1 BC047483.1 

    8 DOTS entries:

    DT.110551  DT.65286227  DT.91680780  DT.91723087  DT.40128887  DT.75128357  DT.100747058  DT.95264265 

    Selected AceView cDNA sequences (see all 56):

    BC033791 AI469193 CR603272 AW028333 BC047483 BC017442 CA406661 AI203234 
    AW248443 AI869389 NM_152617 BI825181 AI916598 BU149789 BI520496 BU625438 
    BQ024697 BG717241 BI334465 BU742524 AI468790 AK093113 BF435757 AX747931 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for RNF168    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                                
    SP2:              -                                 


    ECgene alternative splicing isoforms for RNF168

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RNF168 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGCCTTTT
    RNF168 Expression
    About this image

    RNF168 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RNF168 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.250648
        Pathway & Disease-focused RT2 Profiler PCR Arrays including RNF168: 
              DNA Damage Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat RNF168
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNF168

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RNF168 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnf1681 , 5 ring finger protein 1681, 5 75.07(n)1
    65.19(a)1
      16 (22.51 cM)5
    702381  NM_027355.21  NP_081631.21 
     322774595 
    chicken
    (Gallus gallus)
    Aves RNF1681 ring finger protein 168, E3 ubiquitin protein ligase 55.56(n)
    47.1(a)
      770166  XM_001233497.3  XP_001233498.1 
    lizard
    (Anolis carolinensis)
    Reptilia RNF1686
    ring finger protein 168, E3 ubiquitin protein liga...
    40(a)
    1 ↔ 1
    3(30728743-30737508)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.62742 Xenopus laevis transcribed sequence with weak similarity more 71.11(n)    BU916770.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rnf1686
    ring finger protein 168
    31(a)
    1 ↔ 1
    15(3967043-3986158) ENSDARG00000026757


    ENSEMBL Gene Tree for RNF168 (if available)
    TreeFam Gene Tree for RNF168 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RNF168 gene
    3 SIMAP similar genes for RNF168 using alignment to 2 protein entries:     RN168_HUMAN (see all proteins):
    TRIM39    LONRF1    TRIM5

    Find genes that share paralogs with RNF168           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RNF168
    PGOHUM00000245866


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RNF168 (see all 1063)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1165486801,2
    F--196051572(+) GAGACG/AGAGTC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1161152701,2
    F--196051585(+) CAGTCT/CGTCAC 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1920169051,2
    --196051662(+) CTCTGC/TCTCAG 1 -- int10--------
    rs1497224601,2
    --196051670(+) CAGCCC/TCCCGA 1 -- int10--------
    rs1454890961,2
    --196051673(+) CCTCCC/TGAATA 1 -- int10--------
    rs1488490501,2
    --196051727(+) TATTTC/TTAGTA 1 -- int10--------
    rs1839451501,2
    --196051739(+) AGACGC/GCGTTT 1 -- int10--------
    rs1451707521,2
    C--196051801(+) GCCTCA/GGCCTC 1 -- int10--------
    rs1120802971,2
    F--196051835(+) TGAGCC/TACCAT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs768688231,2
    C,F--196051923(+) CTGCAA/GCTATT 1 -- int11Minor allele frequency- G:0.03EA 120

    HapMap Linkage Disequilibrium report for RNF168 (196195654 - 196230639 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for RNF168:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677146CNV Deletion23128226
    esv2726588CNV Deletion23290073
    nsv10389CNV Loss18304495
    nsv878182CNV Loss21882294
    nsv822416CNV Loss20364138
    dgv5374n71CNV Gain21882294
    nsv878186CNV Gain21882294
    nsv469831CNV Complex16826518

    Human Gene Mutation Database (HGMD): RNF168
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RNF168
    DNA2.0 Custom Variant and Variant Library Synthesis for RNF168

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612688   
    OMIM disorders: 611943  
    UniProtKB/Swiss-Prot: RN168_HUMAN, Q8IYW5
  • Riddle syndrome (RIDDLES) [MIM:611943]: Characterized by increased radiosensitivity, immunodeficiency,
    mild motor control and learning difficulties, facial dysmorphism, and short stature. Defects are probably due to
    impaired localization of TP53BP1 and BRCA1 at DNA lesions. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 1 disease for RNF168:    
    About MalaCards
    riddle syndrome


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    Export disorders for RNF168 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RNF168 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with RNF168)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tandem protein interaction modules organize the ubiquitin-dependent response to DNA double-strand breaks. (PubMed id 22742833)1, 2 Panier S.... Durocher D. (Mol. Cell 2012)
    2. A novel ubiquitin mark at the N-terminal tail of histone H2As targeted by RNF168 ubiquitin ligase. (PubMed id 22713238)1, 2 Gatti M.... Penengo L. (Cell Cycle 2012)
    3. RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA Damage signaling. (PubMed id 22980979)1, 2 Mattiroli F.... Sixma T.K. (Cell 2012)
    4. DNA damage-inducible SUMOylation of HERC2 promotes RNF8 binding via a novel SUMO-binding Zinc finger. (PubMed id 22508508)1, 2 Danielsen J.R.... Mailand N. (J. Cell Biol. 2012)
    5. Molecular insights into the function of RING Finger (RNF)-containing proteins hRNF8 and hRNF168 in Ubc13/Mms2-dependent ubiquitylation. (PubMed id 22589545)1, 2 Campbell S.J.... Glover J.N. (J. Biol. Chem. 2012)
    6. RNF8- and RNF168-dependent degradation of KDM4A/JMJD2A triggers 53BP1 recruitment to DNA damage sites. (PubMed id 22373579)1, 2 Mallette F.A.... Richard S. (EMBO J. 2012)
    7. UMI, a novel RNF168 ubiquitin binding domain involved in the DNA damage signaling pathway. (PubMed id 21041483)1, 2 Pinato S.... Penengo L. (Mol. Cell. Biol. 2011)
    8. RNF168, a new RING finger, MIU-containing protein that modifies chromatin by ubiquitination of histones H2A and H2AX. (PubMed id 19500350)1, 2 Pinato S....Penengo L. (BMC Mol. Biol. 2009)
    9. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. (PubMed id 19203578)1, 2 Stewart G.S....Durocher D. (Cell 2009)
    10. RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins. (PubMed id 19203579)1, 2 Doil C.... Lukas C. (Cell 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 165918 HGNC: 26661 AceView: FLJ35794 Ensembl:ENSG00000163961 euGenes: HUgn165918
    ECgene: RNF168 H-InvDB: RNF168

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RNF168 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RNF168 gene:
    Search GeneIP for patents involving RNF168

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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