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    RNF8 ring finger protein 8, E3 ubiquitin protein ligase [ Homo sapiens ]

    Gene ID: 9025, updated on 11-May-2012

    Summary

    Official Symbol
    RNF8provided by HGNC
    Official Full Name
    ring finger protein 8, E3 ubiquitin protein ligaseprovided by HGNC
    Primary source
    HGNC:10071
    See related
    Ensembl:ENSG00000112130; HPRD:11521; MIM:611685; Vega:OTTHUMG00000014620
    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
    FLJ12013; KIAA0646
    Summary
    The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

    Genomic context

    Location :
    6p21.3
    Sequence :
    Chromosome: 6; NC_000006.11 (37321748..37362514)
    See RNF8 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene pim-1 oncogene Neighboring gene transmembrane protein 217 Neighboring gene TBC1 domain family, member 22B Neighboring gene FtsJ methyltransferase domain containing 2 Neighboring gene coiled-coil domain containing 167

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O76064 Q15834 CCDC85B    HPRD  PubMed  
    O76064 Q9C0F1 CEP44    HPRD  PubMed  
    O76064 Q13868 EXOSC2    HPRD  PubMed  
    O76064 P19793 RXRA    HPRD  PubMed  
    O76064 P51965 UBE2E1    HPRD  PubMed  
    O76064 Q96LR5 UBE2E2    HPRD  PubMed  
    O76064 Q969T4 UBE2E3    HPRD  PubMed  
    BioGRID:114492 BioGRID:116198 CCDC85B    BioGRID  PubMed Two-hybrid 
    BioGRID:114492 BioGRID:123315 CEP44    BioGRID  PubMed Two-hybrid 
    BioGRID:114492 BioGRID:114438 HERC2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114492 BioGRID:115014 MDC1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114492 BioGRID:110411 MGMT    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114492 BioGRID:114492 RNF8    BioGRID  PubMed Biochemical Activity 
    BioGRID:114492 BioGRID:112168 RXRA    BioGRID  PubMed FRET; Reconstituted Complex; Two-hybrid 
    BioGRID:114492 BioGRID:113011 TP53BP1    BioGRID  PubMed Co-localization 
    BioGRID:114492 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:114492 BioGRID:113172 UBE2E1    BioGRID  PubMed Two-hybrid 
    BioGRID:114492 BioGRID:113173 UBE2E2    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:114492 BioGRID:115740 UBE2E3    BioGRID  PubMed Two-hybrid 
    BioGRID:114492 BioGRID:113182 UBE2N    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:114492 BioGRID:120572 UBE2W    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acid-amino acid ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin-protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell division IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    double-strand break repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H2A ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone H2B ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitosis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    midbody IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase RNF8
    Names
    E3 ubiquitin-protein ligase RNF8
    C3HC4-type zinc finger protein
    ring finger protein (C3HC4 type) 8
    UBC13/UEV-interacting ring finger protein
    NP_003949.1
    NP_898901.1

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_003958.3NP_003949.1  E3 ubiquitin-protein ligase RNF8 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the most abundant transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB014546, BE327572, DA064222
      Consensus CDS
      CCDS4834.1
      UniProtKB/Swiss-Prot
      O76064
      Related
      ENSP00000362578, OTTHUMP00000016323, ENST00000373479, OTTHUMT00000040403
      Conserved Domains (3) summary
      cd00060
      Location:17111
      Blast Score: 161
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd00162
      Location:402444
      Blast Score: 132
      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 ...
      pfam13923
      Location:399442
      Blast Score: 138
      zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)
    2. NM_183078.2NP_898901.1  E3 ubiquitin-protein ligase RNF8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon within the coding region, which leads to a translation frameshift, as compared to variant 1. The resulting isoform (2) contains a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AB014546, BC007517, BE327572, BM979512, DA064222
      Consensus CDS
      CCDS4833.1
      UniProtKB/Swiss-Prot
      O76064
      Related
      ENSP00000418879, OTTHUMP00000216659, ENST00000469731, OTTHUMT00000357593
      Conserved Domains (1) summary
      cd00060
      Location:17111
      Blast Score: 163
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

    RNA

    1. NR_046399.1 RNA Sequence

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region which results in a frameshift, compared to variant 1, and which renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). Therefore, this variant is represented as non-protein coding.
      Source sequence(s)
      AB014546, AK298319, BE327572, DA064222

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      37321748..37362514
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      37040684..37081344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB012770.1 BAA33557.1
    genomic AL096712.20 CAB75689.1
    genomic CH471081.1 EAX03943.1
      EAX03944.1
      EAX03945.1
    mRNA AB014546.1 BAA31621.2
    mRNA AF334675.1 AAQ14887.1
    mRNA AK022075.1 None
    mRNA AK222765.1 BAD96485.1
    mRNA AK298319.1 BAG60572.1
    mRNA AK308840.1 None
    mRNA AL711279.1 None
    mRNA BC007517.2 AAH07517.1
    mRNA BE327572.1 None
    mRNA BF110581.1 None
    mRNA BG029939.1 None
    mRNA BM979512.1 None
    mRNA BT007446.1 AAP36114.1
    mRNA CA418096.1 None
    mRNA DA064222.1 None
    other-genetic DQ890737.2 ABM81663.1
    other-genetic DQ893909.2 ABM84835.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O76064.1 GenPept UniProtKB/Swiss-Prot:O76064

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