XPG (xeroderma pigmentosum, complementation group G)

Identity

Other names	ERCC5
Hugo	ERCC5
Location	13q32-33
	XPG (13q32-33) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description	30 kb; 15 exons (from 61 to 1074 bp) and 14 introns (250 to 5763 bp)
Transcription	15 exons Six spliced XPG mRNA isoforms retaining alternatively spliced exons (I,III), full intron retentions (II, VI), partial intron retention (V) and partial exon skipping (IV)

Protein

Description	xeroderma pigmentosum group G complementing factor; DNA-repair protein complementing XPG cells
Function	The XPG protein has DNA endonuclease activity without preference for damaged DNA and is responsible for the 3' incision made during Nucleotide Excision Repair (NER). At the site of a lesion NER proteins create a DNA bubble structure over a length of approximately 25 nucleotides and the XPG protein incises the damaged DNA strand 0-2 nucleotides 3' to the ssDNA-dsDNA junction. In most studies the 3'-incision made by the XPG protein appeared to be performed prior to and independently of the 5'-incision by XPF-ERCC1. The XPG protein is required non-enzymatically for subsequent 5=D5incision by the XPF/ERCC1 heterodimer during the NER process. Patients belonging to the XP-G complementation group clinically exhibit heterogeneous symptoms, from mild to very severe, sometimes associated with CS. XP-G cells are almost completely repair-deficient and as UV-sensitive as XP-A cells. About half of the described XPG patients exhibit also CS symptoms. In that case, the XPG protein is also involved in the transcription-coupled repair of oxidative DNA lesions.
Homology	Extensive sequence similarities, in bipartite domain A and B, to products of RAD repair genes of two yeasts, Saccharomyces cerevisae RAD2 and Schizosaccharomyces pombe RAD13

Mutations

Germinal

5 XPG sequence alterations: 3 point mutations and two small deletions

Implicated in

Entity	xeroderma pigmentosum, XP group G / cockayne=D5s syndrome, XP/CS
Disease	Early skin tumours

External links

	Nomenclature
Hugo	ERCC5
GDB	ERCC5
Entrez_Gene	ERCC5  2073  excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))
	Cards
Atlas	XPGID300
GeneCards	ERCC5
Ensembl	ERCC5 [Search_View]   ENSG00000134899 [Gene_View]
Genatlas	ERCC5
GeneLynx	ERCC5
eGenome	ERCC5
euGene	2073
	Genomic and cartography
GoldenPath	ERCC5  -     chr13:102296175-102326346 +  13q22|13q33   [Description]    (hg18-Mar_2006)
Ensembl	ERCC5 - 13q22|13q33 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	ERCC5
	Gene and transcription
Genbank	AF462447 [ ENTREZ ]
Genbank	BC031522 [ ENTREZ ]
Genbank	BQ707436 [ ENTREZ ]
Genbank	BX647399 [ ENTREZ ]
Genbank	D16305 [ ENTREZ ]
RefSeq	NM_000123 [ SRS ]    NM_000123 [ ENTREZ ]
RefSeq	AC_000056 [ SRS ]    AC_000056 [ ENTREZ ]
RefSeq	NC_000013 [ SRS ]    NC_000013 [ ENTREZ ]
RefSeq	NT_009952 [ SRS ]    NT_009952 [ ENTREZ ]
RefSeq	NW_925517 [ SRS ]    NW_925517 [ ENTREZ ]
AceView	ERCC5 AceView - NCBI
Unigene	Hs.258429 [ SRS ]    Hs.258429 [ NCBI ]     HS258429 [ spliceNest ]
Fast-db	8759 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P28715 [ SRS]    P28715 [ EXPASY ]     P28715 [ INTERPRO ]
Prosite	PS00841 XPG_1 [ SRS ]    PS00841 XPG_1 [ Expasy ]
Prosite	PS00842 XPG_2 [ SRS ]    PS00842 XPG_2 [ Expasy ]
Interpro	IPR008918 HhH2 [ SRS ]    IPR008918 HhH2 [ EBI ]
Interpro	IPR006085 XPG_DNA_repair_N [ SRS ]    IPR006085 XPG_DNA_repair_N [ EBI ]
Interpro	IPR006086 XPG_I [ SRS ]    IPR006086 XPG_I [ EBI ]
Interpro	IPR001044 XPGC_DNA_repair [ SRS ]    IPR001044 XPGC_DNA_repair [ EBI ]
Interpro	IPR006084 XPGC_Rad_DNA_repair [ SRS ]    IPR006084 XPGC_Rad_DNA_repair [ EBI ]
CluSTr	P28715
Pfam	PF00867 XPG_I [ SRS ]    PF00867 XPG_I [ Sanger ]    pfam00867 [ NCBI-CDD ]
Pfam	PF00752 XPG_N [ SRS ]    PF00752 XPG_N [ Sanger ]    pfam00752 [ NCBI-CDD ]
Smart	SM00279 HhH2 [EMBL]
Smart	SM00484 XPGI [EMBL]
Smart	SM00485 XPGN [EMBL]
Blocks	P28715
HPRD	00595
	Protein Interaction databases
DIP	P28715
IntAct	P28715
	Polymorphism : SNP, mutations, diseases
OMIM	133530;214150;278780    [ map ]
GENECLINICS	133530;214150;278780
SNP	ERCC5 [dbSNP-NCBI]
SNP	NM_000123 [SNP-NCI]
SNP	ERCC5 [GeneSNPs - Utah]  ERCC5] [HGBASE - SRS]
HAPMAP	ERCC5 [HAPMAP]
COSMIC	ERCC5 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	ERCC5
	General knowledge
Family Browser	ERCC5 [UCSC Family Browser]
SOURCE	NM_000123
SMD	Hs.258429
SAGE	Hs.258429
GO	bubble DNA binding [Amigo]  bubble DNA binding
GO	DNA binding [Amigo]  DNA binding
GO	double-stranded DNA binding [Amigo]  double-stranded DNA binding
GO	single-stranded DNA binding [Amigo]  single-stranded DNA binding
GO	single-stranded DNA binding [Amigo]  single-stranded DNA binding
GO	catalytic activity [Amigo]  catalytic activity
GO	nuclease activity [Amigo]  nuclease activity
GO	endonuclease activity [Amigo]  endonuclease activity
GO	endodeoxyribonuclease activity [Amigo]  endodeoxyribonuclease activity
GO	nucleus [Amigo]  nucleus
GO	nucleus [Amigo]  nucleus
GO	holo TFIIH complex [Amigo]  holo TFIIH complex
GO	DNA repair [Amigo]  DNA repair
GO	transcription-coupled nucleotide-excision repair [Amigo]  transcription-coupled nucleotide-excision repair
GO	nucleotide-excision repair [Amigo]  nucleotide-excision repair
GO	nucleotide-excision repair, DNA incision, 3'-to lesion [Amigo]  nucleotide-excision repair, DNA incision, 3'-to lesion
GO	nucleotide-excision repair, DNA incision, 3'-to lesion [Amigo]  nucleotide-excision repair, DNA incision, 3'-to lesion
GO	sensory perception of sound [Amigo]  sensory perception of sound
GO	UV protection [Amigo]  UV protection
GO	response to UV-C [Amigo]  response to UV-C
GO	hydrolase activity [Amigo]  hydrolase activity
GO	protein homodimerization activity [Amigo]  protein homodimerization activity
GO	negative regulation of apoptosis [Amigo]  negative regulation of apoptosis
GO	protein N-terminus binding [Amigo]  protein N-terminus binding
PubGene	ERCC5
TreeFam	ERCC5
CTD	2073 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	ERCC5 Related clones (RZPD - Berlin)
	PubMed
PubMed	46 Pubmed reference(s) in LocusLink

Bibliography

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PMID 8483505

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PMID 7504187

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PMID 8090225

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PMID 8078765

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PMID 7657672

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PMID 7651464

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PMID 7700386

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PMID 7697716

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PMID 7799936

Ultraviolet-induced movement of the human DNA repair protein, Xeroderma pigmentosum type G, in the nucleus.

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Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (16) : 8368-8373.

PMID 8710877

Roles of XPG and XPF/ERCC1 endonucleases in UV-induced immunostaining of PCNA in fibroblasts.

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PMID 8660947

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PMID 8818951

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PMID 8632779

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PMID 8626644

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PMID 8652557

DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells.

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PMID 9305916

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PMID 10024877

Postnatal growth failure, short life span, and early onset of cellular senescence and subsequent immortalization in mice lacking the xeroderma pigmentosum group G gene.

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PMID 10022922

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PMID 9927729

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PMID 9864391

Reduced expression levels of nucleotide excision repair genes in lung cancer: a case-control analysis.

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PMID 10910954

Computer based analyses of the 5'-flanking regions of selected genes involved in the nucleotide excision repair complex.

Zhong X, Thornton K, Reed E

International journal of oncology. 2000 ; 17 (2) : 375-380.

PMID 10891549

DNA repair. The bases for Cockayne syndrome.

Hanawalt PC

Nature. 2000 ; 405 (6785) : 415-416.

PMID 10839526

Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome.

Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK

Cell. 2000 ; 101 (2) : 159-171.

PMID 10786832

Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK.

Araˆ†jo SJ, Tirode F, Coin F, Pospiech H, Syvˆ§oja JE, Stucki M, Hˆºbscher U, Egly JM, Wood RD

Genes & development. 2000 ; 14 (3) : 349-359.

PMID 10673506

Terminally differentiated human neurons repair transcribed genes but display attenuated global DNA repair and modulation of repair gene expression.

Nouspikel T, Hanawalt PC

Molecular and cellular biology. 2000 ; 20 (5) : 1562-1570.

PMID 10669734

Induced mutagenic effects in the nucleotide excision repair deficient Drosophila mutant mus201(D1), expressing a truncated XPG protein.

Callˆ©ja FM, Nivard MJ, Eeken JC

Mutation research. 2001 ; 461 (4) : 279-288.

PMID 11104904

Purkinje cell degeneration in mice lacking the xeroderma pigmentosum group G gene.

Sun XZ, Harada YN, Takahashi S, Shiomi N, Shiomi T

Journal of neuroscience research. 2001 ; 64 (4) : 348-354.

PMID 11340641

The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.

Emmert S, Schneider TD, Khan SG, Kraemer KH

Nucleic acids research. 2001 ; 29 (7) : 1443-1452.

PMID 11266544

Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosome.

Araˆ†jo SJ, Nigg EA, Wood RD

Molecular and cellular biology. 2001 ; 21 (7) : 2281-2291.

PMID 11259578

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

Zafeiriou DI, Thorel F, Andreou A, Kleijer WJ, Raams A, Garritsen VH, Gombakis N, Jaspers NG, Clarkson SG

Pediatric research. 2001 ; 49 (3) : 407-412.

PMID 11228268

Novel functional interactions between nucleotide excision DNA repair proteins influencing the enzymatic activities of TFIIH, XPG, and ERCC1-XPF.

Winkler GS, Sugasawa K, Eker AP, de Laat WL, Hoeijmakers JH

Biochemistry. 2001 ; 40 (1) : 160-165.

PMID 11141066

Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription.

Berneburg M, Lehmann AR

Advances in genetics. 2001 ; 43 : 71-102.

PMID 11037299

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Contributor(s)

Written	05-2001	Anne Stary and Alain Sarasin

Citation

This paper should be referenced as such :

Stary A, Sarasin A . XPG (xeroderma pigmentosum, complementation group G). Atlas Genet Cytogenet Oncol Haematol. May 2001 . URL : http://AtlasGeneticsOncology.org/Genes/XPGID300.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:28:09 2008