Xeroderma Pigmentosum, Complementation Group G (XPG)

ERCM2; ERCC5; UVDR; XPGC; Excision Repair Cross-Complementing Rodent Repair Deficiency 5; Cockayne Syndrome; DNA repair protein complementing XP-G cells

SPN	U970
HGNC	3437
MGI	103582
PubMed	22417308
RGD	1586176
UniProt	P28715
Wiki	ERCC5

ERCC5  is involved in excision repair of UV-induced DNA damage. Mutations cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been described, but the biological validity of all variants has not been determined.

The human genes correcting DNA repair defects are termed excision-repair cross-complementing or ERCC genes. A number appended to the symbol refers to the rodent complementary group that is corrected by the human gene. The ERCC5 gene corrects the excision repair deficiency of Chinese hamster ovary cell line UV135 of complementation group 5.

Reference

"Complementation of the DNA repair defect in Xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2."
Nature 363:182-185(1993) [PubMed] [Europe PMC] [Abstract]

"An ERCC5 gene with homology to yeast RAD2 is involved in group G Xeroderma pigmentosum."
Mutat. Res. 314:167-175(1994) [PubMed] [Europe PMC] [Abstract]

"Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe."
Mol. Cell. Biol. 13:6393-6402(1993) [PubMed] [Europe PMC] [Abstract]

"The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms."
Nucleic Acids Res. 29:1443-1452(2001) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and analysis of human chromosome 13."
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization."
Genomics 21:283-285(1994) [PubMed] [Europe PMC] [Abstract]

"Isolation of active recombinant XPG protein, a human DNA repair endonuclease."
J. Biol. Chem. 269:15965-15968(1994) [PubMed] [Europe PMC] [Abstract]

"XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair."
Nature 371:432-435(1994) [PubMed] [Europe PMC] [Abstract]

"Human Xeroderma pigmentosum group G gene encodes a DNA endonuclease."
Nucleic Acids Res. 22:3312-3316(1994) [PubMed] [Europe PMC] [Abstract]

"XPG protein has a structure-specific endonuclease activity."
Mutat. Res. 347:55-60(1995) [PubMed] [Europe PMC] [Abstract]

"The DNA repair endonuclease XPG binds to proliferating cell nuclear antigen (PCNA) and shares sequence elements with the PCNA-binding regions of FEN-1 and cyclin-dependent kinase inhibitor p21."
J. Biol. Chem. 272:24522-24529(1997) [PubMed] [Europe PMC] [Abstract]

"The XPG story."
Biochimie 85:1113-1121(2003) [PubMed] [Europe PMC] [Abstract]

"A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy."
Hum. Mutat. 14:9-22(1999) [PubMed] [Europe PMC] [Abstract]

"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient."
Hum. Mol. Genet. 3:963-967(1994) [PubMed] [Europe PMC] [Abstract]

"A common mutational pattern in Cockayne syndrome patients from Xeroderma pigmentosum group G: implications for a second XPG function."
Proc. Natl. Acad. Sci. U.S.A. 94:3116-3121(1997) [PubMed] [Europe PMC] [Abstract]

"Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy."
Pediatr. Res. 49:407-412(2001) [PubMed] [Europe PMC] [Abstract]

"The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity."
J. Invest. Dermatol. 118:344-351(2002) [PubMed] [Europe PMC] [Abstract]

"Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients."
J. Invest. Dermatol. 118:972-982(2002) [PubMed] [Europe PMC] [Abstract]