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

    Gene ID: 319955, updated on 9-Mar-2019

    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
    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

    Genomic context

    See Ercc6 in Genome Data Viewer
    Location:
    14; 14 B
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 14 NC_000080.6 (32513283..32580990)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 14 NC_000080.5 (33326707..33394175)

    Chromosome 14 - NC_000080.6Genomic 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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    DNA-dependent ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein C-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein N-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein tyrosine kinase activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA repair IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    activation of JNKK activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    activation of JUN kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    base-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to DNA damage stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multicellular organism growth IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of DNA-templated transcription, elongation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of defense response to virus by host ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of peptidyl-serine phosphorylation of STAT protein ISO
    Inferred from Sequence Orthology
    more info
     
    pyrimidine dimer repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of DNA-templated transcription, elongation ISO
    Inferred from Sequence Orthology
    more info
     
    response to UV IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to UV ISO
    Inferred from Sequence Orthology
    more info
     
    response to UV-B IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to X-ray IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to gamma radiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to oxidative stress ISO
    Inferred from Sequence Orthology
    more info
     
    response to superoxide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to toxic substance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription elongation from RNA polymerase I promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription-coupled nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription-coupled nucleotide-excision repair ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    transcription elongation factor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    DNA excision repair protein ERCC-6
    Names
    CS group B correcting
    NP_001074690.1
    XP_006519183.1
    XP_006519184.1
    XP_006519185.1
    XP_006519186.1
    XP_006519187.1
    XP_006519188.1
    XP_006519189.1

    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_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
      ENSMUSP00000066256.6, ENSMUST00000066807.7
      Conserved Domains (3) summary
      cd00046
      Location:523673
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:826956
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00176
      Location:506808
      SNF2_N; SNF2 family N-terminal domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000080.6 Reference GRCm38.p4 C57BL/6J

      Range
      32513283..32580990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006519121.3XP_006519184.1  DNA excision repair protein ERCC-6 isoform X2

      Conserved Domains (3) summary
      cd00046
      Location:523673
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:826956
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00176
      Location:506808
      SNF2_N; SNF2 family N-terminal domain
    2. 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 (3) summary
      cd00046
      Location:523673
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:826956
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00176
      Location:506808
      SNF2_N; SNF2 family N-terminal domain
    3. XM_006519123.3XP_006519186.1  DNA excision repair protein ERCC-6 isoform X3

      See identical proteins and their annotated locations for XP_006519186.1

      Conserved Domains (3) summary
      cd00046
      Location:296446
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:599729
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00176
      Location:279581
      SNF2_N; SNF2 family N-terminal domain
    4. XM_006519122.2XP_006519185.1  DNA excision repair protein ERCC-6 isoform X3

      See identical proteins and their annotated locations for XP_006519185.1

      Conserved Domains (3) summary
      cd00046
      Location:296446
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:599729
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00176
      Location:279581
      SNF2_N; SNF2 family N-terminal domain
    5. XM_006519124.3XP_006519187.1  DNA excision repair protein ERCC-6 isoform X4

      Conserved Domains (3) summary
      cd00046
      Location:259409
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:562692
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00176
      Location:242544
      SNF2_N; SNF2 family N-terminal domain
    6. XM_006519125.2XP_006519188.1  DNA excision repair protein ERCC-6 isoform X5

      Conserved Domains (3) summary
      cd00046
      Location:1144
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:297427
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
      pfam00176
      Location:1279
      SNF2_N; SNF2 family N-terminal domain
    7. XM_006519126.2XP_006519189.1  DNA excision repair protein ERCC-6 isoform X6

      Conserved Domains (3) summary
      COG0553
      Location:3446
      HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
      cd00046
      Location:6116
      DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.
      cd00079
      Location:269399
      HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

    RNA

    1. XR_383187.3 RNA Sequence

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