ERCC5

From Wikipedia, the free encyclopedia

Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))

Identifiers

Symbol(s)

ERCC5; ERCM2; UVDR; XPG; XPGC

External IDs

OMIM: 133530 MGI: 103582 HomoloGene: 37265

Gene ontology
Molecular Function:	• DNA binding • single-stranded DNA binding • nuclease activity • endonuclease activity • endodeoxyribonuclease activity • hydrolase activity
Cellular Component:	• nucleus
Biological Process:	• DNA repair • transcription-coupled nucleotide-excision repair • nucleotide-excision repair • sensory perception of sound

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000123 (mRNA)
NP_000114 (protein)

NM_011729 (mRNA)
NP_035859 (protein)

Location

Chr 13: 102.3 - 102.33 Mb

Chr 1: 44.09 - 44.13 Mb

Pubmed search

[1]

[2]

Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)), also known as ERCC5, is a human gene.^[1]

Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G) 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.^[1]

[edit] References

^ ^a ^b Entrez Gene: ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)).

[edit] Further reading

Miura M (1999). "Detection of chromatin-bound PCNA in mammalian cells and its use to study DNA excision repair.". J. Radiat. Res. 40 (1): 1–12. PMID 10408173.
Cleaver JE, Thompson LH, Richardson AS, States JC (1999). "A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.". Hum. Mutat. 14 (1): 9–22. doi:10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6. PMID 10447254.
Takahashi E, Shiomi N, Shiomi T (1993). "Precise localization of the excision repair gene, ERCC5, to human chromosome 13q32.3-q33.1 by direct R-banding fluorescence in situ hybridization.". Jpn. J. Cancer Res. 83 (11): 1117–9. PMID 1483924.
Mudgett JS, MacInnes MA (1991). "Isolation of the functional human excision repair gene ERCC5 by intercosmid recombination.". Genomics 8 (4): 623–33. PMID 2276736.
Shiomi T, Harada Y, Saito T, et al. (1994). "An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum.". Mutat. Res. 314 (2): 167–75. PMID 7510366.
Lehmann AR, Bootsma D, Clarkson SG, et al. (1994). "Nomenclature of human DNA repair genes.". Mutat. Res. 315 (1): 41–2. PMID 7517009.
Cloud KG, Shen B, Strniste GF, Park MS (1995). "XPG protein has a structure-specific endonuclease activity.". Mutat. Res. 347 (2): 55–60. PMID 7651464.
Matsunaga T, Mu D, Park CH, et al. (1995). "Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies.". J. Biol. Chem. 270 (35): 20862–9. PMID 7657672.
Nouspikel T, Clarkson SG (1994). "Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.". Hum. Mol. Genet. 3 (6): 963–7. PMID 7951246.
Habraken Y, Sung P, Prakash L, Prakash S (1994). "Human xeroderma pigmentosum group G gene encodes a DNA endonuclease.". Nucleic Acids Res. 22 (16): 3312–6. PMID 8078765.
Samec S, Jones TA, Corlet J, et al. (1994). "The human gene for xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization.". Genomics 21 (1): 283–5. doi:10.1006/geno.1994.1261. PMID 8088806.
O'Donovan A, Davies AA, Moggs JG, et al. (1994). "XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair.". Nature 371 (6496): 432–5. doi:10.1038/371432a0. PMID 8090225.
O'Donovan A, Scherly D, Clarkson SG, Wood RD (1994). "Isolation of active recombinant XPG protein, a human DNA repair endonuclease.". J. Biol. Chem. 269 (23): 15965–8. PMID 8206890.
MacInnes MA, Dickson JA, Hernandez RR, et al. (1993). "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 (10): 6393–402. PMID 8413238.
Scherly D, Nouspikel T, Corlet J, et al. (1993). "Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2.". Nature 363 (6425): 182–5. doi:10.1038/363182a0. PMID 8483504.
O'Donovan A, Wood RD (1993). "Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5.". Nature 363 (6425): 185–8. doi:10.1038/363185a0. PMID 8483505.
Iyer N, Reagan MS, Wu KJ, et al. (1996). "Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein.". Biochemistry 35 (7): 2157–67. doi:10.1021/bi9524124. PMID 8652557.
Park MS, Knauf JA, Pendergrass SH, et al. (1996). "Ultraviolet-induced movement of the human DNA repair protein, Xeroderma pigmentosum type G, in the nucleus.". Proc. Natl. Acad. Sci. U.S.A. 93 (16): 8368–73. PMID 8710877.
Cooper PK, Nouspikel T, Clarkson SG, Leadon SA (1997). "Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G.". Science 275 (5302): 990–3. PMID 9020084.
Nouspikel T, Lalle P, Leadon SA, et al. (1997). "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 (7): 3116–21. PMID 9096355.