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

GO curators for mouse genes have assigned the following annotations to the gene product of Ercc5. (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 October 16, 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 single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

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

• Researchers have inferred from direct assay, that the gene product of Ercc5
  • participates in the following biological processes:
    • UV protection ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Ercc5
  • participates in the following biological processes:
    • determination of adult lifespan ^[3]
    • DNA repair ^[3]
    • multicellular organism growth ^[1]
    • nucleotide-excision repair ^[1]
    • response to UV ^[3]
    • UV protection ^[4]

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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 Ercc5:
  • participates in the following biological processes:
    • negative regulation of apoptotic process
    • nucleotide-excision repair, DNA incision, 3'-to lesion
    • response to UV
    • response to UV-C
    • transcription-coupled nucleotide-excision repair
    • UV protection
  • performs the following molecular functions:
    • bubble DNA binding
    • double-stranded DNA binding
    • endodeoxyribonuclease activity
    • protein homodimerization activity
    • protein N-terminus binding
    • single-stranded DNA binding
  • is located in the following cellular components:
    • nucleus

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Summary text based on GO annotations supported by structural data

• Ercc5 encodes a protein or proteins that contain the following InterPro domains: 5'-3' exonuclease, C-terminal domain, DNA repair protein (XPGC)/yeast Rad, Helix-hairpin-helix motif, class 2, Xeroderma pigmentosum group G protein, XPG conserved site, XPG N-terminal, XPG/RAD2 endonuclease, indicating that the gene product:
  • performs the following molecular functions:
    • catalytic activity
    • DNA binding
    • endonuclease activity
    • hydrolase activity, acting on ester bonds
    • nuclease activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Ercc5 indicates that it:
  • participates in the following biological processes:
    • response to DNA damage stimulus
  • performs the following molecular functions:
    • DNA binding
    • endonuclease activity
    • hydrolase activity
    • metal ion binding
    • nuclease activity

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References

1. Harada YN et al. (1999) Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene. Mol Cell Biol, 19:2366-72. (PubMed:10022922)
2. Ludwig DL et al. (1996) Molecular cloning and structural analysis of the functional mouse genomic XPG gene. Mamm Genome, 7:644-9. (PubMed:8703115)
3. Shiomi N et al. (2004) Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method. Mol Cell Biol, 24:3712-9. (PubMed:15082767)
4. Shiomi T et al. (1994) An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum. Mutat Res, 314:167-75. (PubMed:7510366)

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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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