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    Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit [ Rattus norvegicus (Norway rat) ]

    Gene ID: 310071, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ercc8provided by RGD
    Official Full Name
    ERCC excision repair 8, CSA ubiquitin ligase complex subunitprovided by RGD
    Primary source
    RGD:1311570
    See related
    EnsemblRapid:ENSRNOG00000009968 AllianceGenome:RGD:1311570
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Ckn1
    Summary
    Predicted to contribute to ubiquitin-protein transferase activity. Involved in response to auditory stimulus and response to organic cyclic compound. Located in perikaryon. Human ortholog(s) of this gene implicated in Cockayne syndrome; Cockayne syndrome A; and UV-sensitive syndrome. Orthologous to human ERCC8 (ERCC excision repair 8, CSA ubiquitin ligase complex subunit). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Brain (RPKM 64.6), Thymus (RPKM 49.0) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Ercc8 in Genome Data Viewer
    Location:
    2q14
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 2 NC_086020.1 (41380901..41418294)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 2 NC_051337.1 (39647393..39686229)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 2 NC_005101.4 (39434617..39473392)

    Chromosome 2 - NC_086020.1Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 15 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 2 Neighboring gene uncharacterized LOC134485832 Neighboring gene 60S ribosomal protein L29-like Neighboring gene ribosomal protein L29, pseudogene 23

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Dynamic compartmentalization of DNA repair proteins within spiral ganglion neurons in response to noise stress. Guthrie OW. Int J Neurosci, 2012 Dec. PMID 22900489
    2. Cockayne syndrome type A: novel mutations in eight typical patients. Bertola DR, et al. J Hum Genet, 2006. PMID 16865293
    3. Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair. Kamiuchi S, et al. Proc Natl Acad Sci U S A, 2002 Jan 8. PMID 11782547, Free PMC Article
    4. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. Khayat M, et al. Am J Med Genet A, 2010 Dec. PMID 21108394
    5. Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. Fousteri M, et al. Cell Res, 2008 Jan. PMID 18166977

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    contributes_to ubiquitin-protein transferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in double-strand break repair via classical nonhomologous end joining ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein autoubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of transcription-coupled nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within response to UV ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to UV ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within response to X-ray ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to auditory stimulus IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to organic cyclic compound IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in single strand break repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within transcription-coupled nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul4-RING E3 ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Cul4A-RING E3 ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of nucleotide-excision repair complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perikaryon IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA excision repair protein ERCC-8
    Names
    Cockayne syndrome 1 (classical)
    excision repair cross-complementation group 8
    excision repair cross-complementing rodent repair deficiency, complementation group 8
    excision repaiross-complementing rodent repair deficiency, complementation group 8

    NCBI Reference Sequences (RefSeq)

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    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_001107650.2 → NP_001101120.2  DNA excision repair protein ERCC-8

      See identical proteins and their annotated locations for NP_001101120.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein.
      Source sequence(s)
      JAXUCZ010000002
      UniProtKB/TrEMBL
      A6I5J9
      Related
      ENSRNOP00000013598.7, ENSRNOT00000013598.7
      Conserved Domains (3) summary
      COG2319
      Location:42 → 369
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:47 → 97
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:42 → 361
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. NR_073139.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC089220, JAXUCZ010000002

    2. NR_073140.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC161924, JAXUCZ010000002
      Related
      ENSRNOT00000077938.3

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086020.1 Reference GRCr8

      Range
      41380901..41418294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017590821.3 → XP_017446310.1  DNA excision repair protein ERCC-8 isoform X1

    2. XM_063281720.1 → XP_063137790.1  DNA excision repair protein ERCC-8 isoform X3

    3. XM_039102174.2 → XP_038958102.1  DNA excision repair protein ERCC-8 isoform X2

      Conserved Domains (2) summary
      sd00039
      Location:47 → 97
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:42 → 345
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    4. XM_039102176.2 → XP_038958104.1  DNA excision repair protein ERCC-8 isoform X3

      Conserved Domains (2) summary
      sd00039
      Location:47 → 97
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:42 → 278
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    5. XM_063281721.1 → XP_063137791.1  DNA excision repair protein ERCC-8 isoform X4

      UniProtKB/TrEMBL
      A6I5K2

    RNA

    1. XR_005500277.2 RNA Sequence

    2. XR_005500278.2 RNA Sequence

    3. XR_010063599.1 RNA Sequence

    4. XR_010063600.1 RNA Sequence

    5. XR_005500279.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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