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'''ERCC2''' 或 '''XPD'''是一种涉及转录偶联[[核苷酸切除修复]]的蛋白质。<br />
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The XPD (ERCC2) gene encodes for a 2.3-kb mRNA containing 22 [[exons]] and 21 [[introns]]. The XPD protein is a 760 [[amino acids]] polypeptide with a size of 87kDa. Defects in this gene can result in three different disorders: the cancer-prone syndrome [[xeroderma pigmentosum]] complementation group D, photosensitive [[trichothiodystrophy]], and [[Cockayne syndrome]].<ref>{{cite web | title = Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2068| accessdate = }}</ref><br />
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Just like [[XPB]], XPD is also a part of human transcriptional [[initiation factor]] [[TFIIH]] and has ATP-dependent [[helicase]] activity.<ref name="pmid11092823">{{cite journal | author = Lee TI, Young RA | title = Transcription of eukaryotic protein-coding genes | journal = Annu. Rev. Genet. | volume = 34 | issue = | pages = 77–137 | year = 2000 | pmid = 11092823 | doi = 10.1146/annurev.genet.34.1.77}}</ref> It belongs to the RAD3/XPD subfamily of helicases.<br />
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XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.<br />
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==相互作用==<br />
ERCC2 has been shown to [[Protein-protein interaction|interact]] with [[GTF2H2]],<ref name=pmid9771713>{{cite journal |last=Coin |first=F |authorlink= |author2=Marinoni J C |author3=Rodolfo C |author4=Fribourg S |author5=Pedrini A M |author6=Egly J M |date=October 1998 |title=Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH |journal=Nat. Genet. |volume=20 |issue=2 |pages=184–8 |publisher= |location = UNITED STATES| issn = 1061-4036| pmid = 9771713 |doi = 10.1038/2491 }}</ref><ref name=pmid11062469>{{cite journal |last=Vermeulen |first=W |authorlink= |author2=Bergmann E |author3=Auriol J |author4=Rademakers S |author5=Frit P |author6=Appeldoorn E |author7=Hoeijmakers J H |author8=Egly J M |date=November 2000 |title=Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder |journal=Nat. Genet. |volume=26 |issue=3 |pages=307–13 |publisher= |location = UNITED STATES| issn = 1061-4036| pmid = 11062469 |doi = 10.1038/81603 }}</ref> [[GTF2H1]],<ref name=pmid8152490>{{cite journal |last=Drapkin |first=R |authorlink= |author2=Reardon J T |author3=Ansari A |author4=Huang J C |author5=Zawel L |author6=Ahn K |author7=Sancar A |author8=Reinberg D |date=April 1994 |title=Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II |journal=[[Nature (journal)|Nature]] |volume=368 |issue=6473 |pages=769–72 |publisher= |location = ENGLAND| issn = 0028-0836| pmid = 8152490 |doi = 10.1038/368769a0 | bibcode = | oclc =| id = | url =https://archive.org/details/sim_nature-uk_1994-04-21_368_6473/page/768| language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref><ref name=pmid9130708>{{cite journal |last=Rossignol |first=M |authorlink= |author2=Kolb-Cheynel I |author3=Egly J M |date=April 1997 |title=Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH |journal=EMBO J. |volume=16 |issue=7 |pages=1628–37 |publisher= |location = ENGLAND| issn = 0261-4189| pmid = 9130708 |doi = 10.1093/emboj/16.7.1628 | bibcode = | oclc =| id = | url =https://archive.org/details/sim_embo-journal_1997-04-01_16_7/page/1628| language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=1169767 }}</ref> [[ERCC5]]<ref name=pmid8652557>{{cite journal |last=Iyer |first=N |authorlink= |author2=Reagan M S |author3=Wu K J |author4=Canagarajah B |author5=Friedberg E C |date=February 1996 |title=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 |journal=Biochemistry |volume=35 |issue=7 |pages=2157–67 |publisher= |location = UNITED STATES| issn = 0006-2960| pmid = 8652557 |doi = 10.1021/bi9524124 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = }}</ref> and [[XPB]].<ref name=pmid8152490/><ref name=pmid8652557/><ref name=pmid15220921>{{cite journal |last=Giglia-Mari |first=Giuseppina |authorlink= |coauthors=Coin Frederic, Ranish Jeffrey A, Hoogstraten Deborah, Theil Arjan, Wijgers Nils, Jaspers Nicolaas G J, Raams Anja, Argentini Manuela, van der Spek P J, Botta Elena, Stefanini Miria, Egly Jean-Marc, Aebersold Ruedi, Hoeijmakers Jan H J, Vermeulen Wim |date=July 2004 |title=A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A |journal=Nat. Genet. |volume=36 |issue=7 |pages=714–9 |publisher= |location = United States| issn = 1061-4036| pmid = 15220921 |doi = 10.1038/ng1387 }}</ref><ref name=pmid9118947>{{cite journal |last=Marinoni |first=J C |authorlink= |author2=Roy R |author3=Vermeulen W |author4=Miniou P |author5=Lutz Y |author6=Weeda G |author7=Seroz T |author8=Gomez D M |author9=Hoeijmakers J H |author10=Egly J M |date=March 1997 |title=Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH |journal=EMBO J. |volume=16 |issue=5 |pages=1093–102 |publisher= |location = ENGLAND| issn = 0261-4189| pmid = 9118947 |doi = 10.1093/emboj/16.5.1093 | bibcode = | oclc =| id = | url =https://archive.org/details/sim_embo-journal_1997-03-03_16_5/page/1092| language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=1169708 }}</ref><br />
==另见==<br />
*[[Excision repair cross-complementing]]<br />
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==参考文献==<br />
{{reflist}}<br />
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==延伸阅读==<br />
{{refbegin | 2}}<br />
{{PBB_Further_reading<br />
| citations =<br />
*{{cite journal | author=Broughton BC, Thompson AF, Harcourt SA, et al. |title=Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome. | url=https://archive.org/details/sim_american-journal-of-human-genetics_1995-01_56_1/page/167 |journal=Am. J. Hum. Genet. |volume=56 |issue= 1 |pages= 167–74 |year= 1995 |pmid= 7825573 |doi= | pmc=1801309 }}<br />
*{{cite journal | author=Jeang KT |title=Tat, Tat-associated kinase, and transcription. |journal=J. Biomed. Sci. |volume=5 |issue= 1 |pages= 24–7 |year= 1998 |pmid= 9570510 |doi=10.1007/BF02253352 }}<br />
*{{cite journal | author=Yankulov K, Bentley D |title=Transcriptional control: Tat cofactors and transcriptional elongation. |journal=Curr. Biol. |volume=8 |issue= 13 |pages= R447–9 |year= 1998 |pmid= 9651670 |doi=10.1016/S0960-9822(98)70289-1 }}<br />
*{{cite journal | author=Cleaver JE, Thompson LH, Richardson AS, States JC |title=A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. |journal=Hum. Mutat. |volume=14 |issue= 1 |pages= 9–22 |year= 1999 |pmid= 10447254 |doi= 10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6 }}<br />
*{{cite journal | author=Lehmann AR |title=The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. | url=https://archive.org/details/sim_genes-development_2001-01-01_15_1/page/14 |journal=Genes Dev. |volume=15 |issue= 1 |pages= 15–23 |year= 2001 |pmid= 11156600 |doi=10.1101/gad.859501 }}<br />
*{{cite journal | author=Benhamou S, Sarasin A |title=ERCC2/XPD gene polymorphisms and cancer risk. |journal=Mutagenesis |volume=17 |issue= 6 |pages= 463–9 |year= 2003 |pmid= 12435843 |doi=10.1093/mutage/17.6.463 }}<br />
*{{cite journal | author=Clarkson SG, Wood RD |title=Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal. |journal=DNA Repair (Amst.) |volume=4 |issue= 10 |pages= 1068–74 |year= 2006 |pmid= 16054878 |doi= 10.1016/j.dnarep.2005.07.001 }}<br />
}}<br />
{{refend}}<br />
==外部链接==<br />
* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=xp GeneReviews/NIH/NCBI/UW entry on Xeroderma Pigmentosum]{{Wayback|url=http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=xp |date=20090927084556 }}<br />
* {{MeshName|ERCC2+Protein}}<br />
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{{DNA修复}}</div>
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