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    RNF168 ring finger protein 168 [ Homo sapiens (human) ]

    Gene ID: 165918, updated on 20-Feb-2018
    Official Symbol
    RNF168provided by HGNC
    Official Full Name
    ring finger protein 168provided by HGNC
    Primary source
    HGNC:HGNC:26661
    See related
    Ensembl:ENSG00000163961 MIM:612688; Vega:OTTHUMG00000155582
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hRNF168
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 13.5), bone marrow (RPKM 9.5) and 24 other tissues See more
    Orthologs
    Location:
    3q29
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (196468783..196503768, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (196195654..196230639, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene UBX domain protein 7 Neighboring gene RNA, 7SL, cytoplasmic 738, pseudogene Neighboring gene UBXN7 antisense RNA 1 Neighboring gene uncharacterized LOC105374306 Neighboring gene uncharacterized LOC105374307 Neighboring gene single-pass membrane protein with coiled-coil domains 1 Neighboring gene ribosomal protein S29 pseudogene 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Riddle syndrome
    MedGen: C2677792 OMIM: 611943 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
    NHGRI GWA Catalog
    • ATM Signaling Network in Development and Disease, organism-specific biosystem (from WikiPathways)
      ATM Signaling Network in Development and Disease, organism-specific biosystemThis pathway is modeled after Figure 4 in the article "The ATM signaling network in development and disease" (See Bibliography). When DNA is damaged, DDR begins to work on recuperating the damage th...
    • Cell Cycle, organism-specific biosystem (from REACTOME)
      Cell Cycle, organism-specific biosystem
      Cell Cycle
    • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
      Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
    • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
      DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
      G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
    • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
      G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
      Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
      Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
    • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
      Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
    • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
      SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
    • SUMOylation, organism-specific biosystem (from REACTOME)
      SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
    • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
      SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ35794, FLJ39749

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    K63-linked polyubiquitin modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-protein transferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-protein transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-strand break repair via nonhomologous end joining TAS
    Traceable Author Statement
    more info
     
    histone H2A K63-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H2A K63-linked ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H2A monoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H2A monoubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H2A-K13 ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H2A-K15 ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H2A-K15 ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    interstrand cross-link repair TAS
    Traceable Author Statement
    more info
    PubMed 
    isotype switching ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription elongation from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein K63-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    site of double-strand break IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    E3 ubiquitin-protein ligase RNF168
    Names
    RING-type E3 ubiquitin transferase RNF168
    ring finger protein 168, E3 ubiquitin protein ligase
    NP_689830.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023425.1 RefSeqGene

      Range
      5001..39986
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_185

    mRNA and Protein(s)

    1. NM_152617.3NP_689830.2  E3 ubiquitin-protein ligase RNF168

      See identical proteins and their annotated locations for NP_689830.2

      Status: REVIEWED

      Source sequence(s)
      AC117490, AK054732, BC033791, BC047483
      Consensus CDS
      CCDS3317.1
      UniProtKB/Swiss-Prot
      Q8IYW5
      Related
      ENSP00000320898.3, OTTHUMP00000208312, ENST00000318037.3, OTTHUMT00000340778
      Conserved Domains (1) summary
      cd00162
      Location:1558
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      196468783..196503768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      196167064..196202063 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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