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Aliases for RNF168 Gene

Aliases for RNF168 Gene

  • Ring Finger Protein 168, E3 Ubiquitin Protein Ligase 2 3
  • HRNF168 3 4
  • E3 Ubiquitin-Protein Ligase RNF168 3
  • Ring Finger Protein 168 2
  • RING Finger Protein 168 4
  • EC 6.3.2.- 4
  • EC 6.3.2 64

External Ids for RNF168 Gene

Summaries for RNF168 Gene

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 for RNF168 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF168 Gene

Genomics for RNF168 Gene

Genomic Location for RNF168 Gene

Start:
196,468,783 bp from pter
End:
196,503,768 bp from pter
Size:
34,986 bases
Orientation:
Minus strand

Genomic View for RNF168 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RNF168 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF168 Gene

Regulatory Elements for RNF168 Gene

Proteins for RNF168 Gene

  • Protein details for RNF168 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYW5-RN168_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF168
    Protein Accession:
    Q8IYW5
    Secondary Accessions:
    • Q8NA67
    • Q96NS4

    Protein attributes for RNF168 Gene

    Size:
    571 amino acids
    Molecular mass:
    65020 Da
    Quaternary structure:
    • Monomer. Interacts with UBE2N/UBC13.
    SequenceCaution:
    • Sequence=BAC04060.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RNF168 Gene

neXtProt entry for RNF168 Gene

Proteomics data for RNF168 Gene at MOPED

Selected DME Specific Peptides for RNF168 Gene

Post-translational modifications for RNF168 Gene

  • Sumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs).
  • Ubiquitinated.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys158, Lys227, Lys232, Lys334, Lys341, Lys389, Lys399, Lys406, Lys409, Lys441, Lys455, Lys468, Lys485, Lys524, Lys528, Lys548, and Lys560

Other Protein References for RNF168 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for RNF168 Gene

Gene Families for RNF168 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

Protein Domains for RNF168 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

RN168_HUMAN
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).:
    • Q8IYW5
Family:
  • Belongs to the RNF168 family.:
    • Q8IYW5
Similarity:
  • Contains 1 RING-type zinc finger.:
    • Q8IYW5
genes like me logo Genes that share domains with RNF168: view

Function for RNF168 Gene

Molecular function for RNF168 Gene

UniProtKB/Swiss-Prot 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) for RNF168 Gene

Gene Ontology (GO) - Molecular Function for RNF168 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 19203578
GO:0004842 ubiquitin-protein transferase activity IDA 19203578
GO:0005515 protein binding IPI 19203578
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with RNF168: view
genes like me logo Genes that share phenotypes with RNF168: view

miRNA for RNF168 Gene

miRTarBase miRNAs that target RNF168

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for RNF168 Gene

Localization for RNF168 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF168 Gene

Nucleus. Note=Localizes to double-strand breaks (DSBs) sites of DNA damage.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNF168 Gene COMPARTMENTS Subcellular localization image for RNF168 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RNF168 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 19203578
GO:0005634 nucleus IDA 19203578
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion --
genes like me logo Genes that share ontologies with RNF168: view

Pathways for RNF168 Gene

SuperPathways for RNF168 Gene

No Data Available

UniProtKB/Swiss-Prot Q8IYW5-RN168_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for RNF168 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006302 double-strand break repair IDA 19203578
GO:0006511 ubiquitin-dependent protein catabolic process IDA 22373579
GO:0006974 cellular response to DNA damage stimulus IDA 19500350
GO:0010212 response to ionizing radiation IDA 19203578
GO:0016567 protein ubiquitination IDA 22373579
genes like me logo Genes that share ontologies with RNF168: view

No data available for Pathways by source for RNF168 Gene

Transcripts for RNF168 Gene

mRNA/cDNA for RNF168 Gene

Unigene Clusters for RNF168 Gene

Ring finger protein 168, E3 ubiquitin protein ligase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RNF168 Gene

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

Relevant External Links for RNF168 Gene

GeneLoc Exon Structure for
RNF168
ECgene alternative splicing isoforms for
RNF168

Expression for RNF168 Gene

mRNA expression in normal human tissues for RNF168 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RNF168 Gene

SOURCE GeneReport for Unigene cluster for RNF168 Gene Hs.250648

genes like me logo Genes that share expressions with RNF168: view

Orthologs for RNF168 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RNF168 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF168 36
  • 99.36 (n)
  • 99.12 (a)
RNF168 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 62 (a)
OneToMany
RNF168 36
  • 82.16 (n)
  • 75.96 (a)
RNF168 37
  • 75 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RNF168 36
  • 83.48 (n)
  • 76.8 (a)
RNF168 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf168 36
  • 75.07 (n)
  • 65.19 (a)
Rnf168 16
Rnf168 37
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 51 (a)
OneToMany
-- 37
  • 44 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 42 (a)
OneToMany
-- 37
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rnf168 36
  • 74.21 (n)
  • 65.78 (a)
chicken
(Gallus gallus)
Aves RNF168 36
  • 55.56 (n)
  • 47.1 (a)
RNF168 37
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF168 37
  • 40 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6274 36
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf168 36
  • 51.9 (n)
  • 46.26 (a)
Str.18706 36
zebrafish
(Danio rerio)
Actinopterygii rnf168 37
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3447 37
  • 30 (a)
OneToOne
Species with no ortholog for RNF168:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF168 Gene

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

Paralogs for RNF168 Gene

Selected SIMAP similar genes for RNF168 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for RNF168 Gene

genes like me logo Genes that share paralogs with RNF168: view

No data available for Paralogs for RNF168 Gene

Variants for RNF168 Gene

Sequence variations from dbSNP and Humsavar for RNF168 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1471771 -- 196,503,291(-) TGATA(C/G)GCTTC utr-variant-5-prime
rs1531924 -- 196,501,950(-) TAAAA(A/G)AAAAA intron-variant
rs2341336 -- 196,493,928(-) ctgca(A/G)tgagc intron-variant
rs2342369 -- 196,482,068(-) agcac(A/C/T)ttggg intron-variant
rs2880341 -- 196,480,067(+) TTCCC(C/T)GTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNF168 Gene

Variant ID Type Subtype PubMed ID
nsv878182 CNV Loss 21882294
nsv469831 CNV Complex 16826518
dgv5374n71 CNV Gain 21882294
nsv878186 CNV Gain 21882294
esv2726588 CNV Deletion 23290073
nsv10389 CNV Loss 18304495
nsv822416 CNV Loss 20364138
esv2677146 CNV Deletion 23128226

Relevant External Links for RNF168 Gene

HapMap Linkage Disequilibrium report
RNF168
Human Gene Mutation Database (HGMD)
RNF168

Disorders for RNF168 Gene

(1) OMIM Diseases for RNF168 Gene (612688)

UniProtKB/Swiss-Prot

RN168_HUMAN
  • 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. {ECO:0000269 PubMed:19203578}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) MalaCards Diseases for RNF168 Gene

Search for RNF168 Gene in MalaCards »
genes like me logo Genes that share disorders with RNF168: view

Publications for RNF168 Gene

  1. The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. (PMID: 19203578) Stewart G.S. … Durocher D. (Cell 2009) 3 4
  2. RNF168 binds and amplifies ubiquitin conjugates on damaged chromosomes to allow accumulation of repair proteins. (PMID: 19203579) Doil C. … Lukas C. (Cell 2009) 3 4
  3. RNF168, a new RING finger, MIU-containing protein that modifies chromatin by ubiquitination of histones H2A and H2AX. (PMID: 19500350) Pinato S. … Penengo L. (BMC Mol. Biol. 2009) 3 4
  4. UMI, a novel RNF168 ubiquitin binding domain involved in the DNA damage signaling pathway. (PMID: 21041483) Pinato S. … Penengo L. (Mol. Cell. Biol. 2011) 3 4
  5. RNF168 ubiquitinates K13-15 on H2A/H2AX to drive DNA Damage signaling. (PMID: 22980979) Mattiroli F. … Sixma T.K. (Cell 2012) 3 4

Products for RNF168 Gene

Sources for RNF168 Gene

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