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    Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 [ Mus musculus (house mouse) ]

    Gene ID: 319955, updated on 22-Aug-2021

    Summary

    Official Symbol
    Ercc6provided by MGI
    Official Full Name
    excision repair cross-complementing rodent repair deficiency, complementation group 6provided by MGI
    Primary source
    MGI:MGI:1100494
    See related
    Ensembl:ENSMUSG00000054051
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CS; CSB; 4732403I04; C130058G22Rik
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 3.9), CNS E14 (RPKM 3.4) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ercc6 in Genome Data Viewer
    Location:
    14; 14 B
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (32235248..32302947)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (32513291..32580990)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 14 NC_000080.5 (33326707..33394175)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1700024G13 gene Neighboring gene choline acetyltransferase Neighboring gene solute carrier family 18 (vesicular monoamine), member 3 Neighboring gene paired related homeobox protein-like 1 Neighboring gene RIKEN cDNA 3425401B19 gene Neighboring gene predicted gene 28651

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP-dependent activity, acting on DNA IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATP-dependent activity, acting on DNA ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP-dependent chromatin remodeler activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables helicase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein C-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein N-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein tyrosine kinase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in DNA protection ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within DNA repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in base-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling 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
     
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of double-strand break repair via nonhomologous end joining ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription, elongation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of defense response to virus by host ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of peptidyl-serine phosphorylation of STAT protein ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription initiation from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of transcription initiation from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within pyrimidine dimer repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription, elongation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transcription elongation from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to UV ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to UV-B IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to X-ray IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to gamma radiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to superoxide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to toxic substance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in single strand break repair ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within transcription elongation from RNA polymerase I promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transcription-coupled nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within transcription-coupled nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transcription-coupled nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in site of DNA damage ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription elongation factor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    DNA excision repair protein ERCC-6
    Names
    ATP-dependent helicase ERCC6
    CS group B correcting
    cockayne syndrome protein CSB
    NP_001074690.1
    XP_006519183.1
    XP_006519186.1
    XP_006519188.1
    XP_006519189.1
    XP_030103719.1
    XP_030103720.1
    XP_036014560.1
    XP_036014561.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001081221.2NP_001074690.1  DNA excision repair protein ERCC-6

      See identical proteins and their annotated locations for NP_001074690.1

      Status: VALIDATED

      Source sequence(s)
      AC154412
      Consensus CDS
      CCDS36868.1
      UniProtKB/TrEMBL
      F8VPZ5
      Related
      ENSMUSP00000066256.7, ENSMUST00000066807.8
      Conserved Domains (2) summary
      PHA02562
      Location:122199
      46; endonuclease subunit; Provisional
      COG0553
      Location:4141003
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000080.7 Reference GRCm39 C57BL/6J

      Range
      32235248..32302947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519120.3XP_006519183.1  DNA excision repair protein ERCC-6 isoform X1

      See identical proteins and their annotated locations for XP_006519183.1

      UniProtKB/TrEMBL
      F8VPZ5
      Conserved Domains (2) summary
      PHA02562
      Location:122199
      46; endonuclease subunit; Provisional
      COG0553
      Location:4141003
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    2. XM_036158668.1XP_036014561.1  DNA excision repair protein ERCC-6 isoform X3

      Conserved Domains (1) summary
      COG0553
      Location:150739
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    3. XM_036158667.1XP_036014560.1  DNA excision repair protein ERCC-6 isoform X2

      Conserved Domains (1) summary
      COG0553
      Location:187776
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    4. XM_030247860.1XP_030103720.1  DNA excision repair protein ERCC-6 isoform X3

      Conserved Domains (1) summary
      COG0553
      Location:150739
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    5. XM_030247859.1XP_030103719.1  DNA excision repair protein ERCC-6 isoform X2

      Conserved Domains (1) summary
      COG0553
      Location:187776
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    6. XM_006519123.4XP_006519186.1  DNA excision repair protein ERCC-6 isoform X2

      See identical proteins and their annotated locations for XP_006519186.1

      Conserved Domains (1) summary
      COG0553
      Location:187776
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    7. XM_006519126.4XP_006519189.1  DNA excision repair protein ERCC-6 isoform X5

      Conserved Domains (1) summary
      COG0553
      Location:3446
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    8. XM_006519125.4XP_006519188.1  DNA excision repair protein ERCC-6 isoform X4

      Conserved Domains (1) summary
      COG0553
      Location:1474
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]

    RNA

    1. XR_003950863.1 RNA Sequence

    2. XR_383187.4 RNA Sequence

    3. XR_003950864.1 RNA Sequence

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