Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Ercc8. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of March 13, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ercc8
  • participates in the following biological processes:
    • response to UV ^[1]
    • response to X-ray ^[2]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Ercc8:
  • participates in the following biological processes:
    • nucleotide-excision repair
    • positive regulation of DNA repair
    • proteasomal ubiquitin-dependent protein catabolic process
    • protein autoubiquitination
    • protein polyubiquitination
    • response to DNA damage stimulus
    • response to oxidative stress
    • response to UV
    • transcription-coupled nucleotide-excision repair
  • performs the following molecular functions:
    • protein complex binding
  • is located in the following cellular components:
    • Cul4A-RING ubiquitin ligase complex
    • nuclear matrix
    • nucleotide-excision repair complex
    • nucleus
    • protein complex

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ercc8 indicates that it:
  • participates in the following biological processes:
    • DNA repair

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References

1. de Waard H et al. (2004) Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage. Mol Cell Biol, 24:7941-8. (PubMed:15340056)
2. Gorgels TG et al. (2007) Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. Mol Cell Biol, 27:1433-41. (PubMed:17145777)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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