ERCC2

From Wikipedia, the free encyclopedia

Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)

Identifiers

ERCC2; EM9; MGC102762; MGC126218; MGC126219; TTD; XPD

External IDs

Gene ontology
Molecular Function:	• nucleotide binding • magnesium ion binding • DNA binding • ATP-dependent DNA helicase activity • protein binding • ATP binding • hydrolase activity • hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides • 5' to 3' DNA helicase activity
Cellular Component:	• nucleus • holo TFIIH complex
Biological Process:	• nucleobase, nucleoside, nucleotide and nucleic acid metabolic process • transcription-coupled nucleotide-excision repair • nucleotide-excision repair • transcription • regulation of transcription, DNA-dependent • transcription from RNA polymerase II promoter • induction of apoptosis • response to oxidative stress • aging • sensory perception of sound • post-embryonic development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000400 (mRNA)
NP_000391 (protein)

NM_007949 (mRNA)
NP_031975 (protein)

Location

Chr 19: 50.55 - 50.57 Mb

Chr 7: 18.54 - 18.55 Mb

Pubmed search

[1]

[2]

ERCC2, or XPD is a protein involved in transcription-coupled nucleotide excision repair.

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, trichothiodystrophy, and Cockayne syndrome.^[1]

Just like XPB, XPD is also a part of human transcriptional initiation factor TFIIH and has ATP-dependent helicase activity.^[2] It belongs to the RAD3/XPD subfamily of helicases.

XPD is essential for the viability of cells. Deletion of XPD in mice is embryonic lethal.

[edit] See also

Excision repair cross-complementing

[edit] References

^ Entrez Gene: ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D).
^ Lee TI, Young RA (2000). "Transcription of eukaryotic protein-coding genes". Annu. Rev. Genet. 34: 77–137. doi:10.1146/annurev.genet.34.1.77. PMID 11092823.

[edit] Further reading

Broughton BC, Thompson AF, Harcourt SA, et al. (1995). "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.". Am. J. Hum. Genet. 56 (1): 167–74. PMID 7825573.
Jeang KT (1998). "Tat, Tat-associated kinase, and transcription.". J. Biomed. Sci. 5 (1): 24–7. PMID 9570510.
Yankulov K, Bentley D (1998). "Transcriptional control: Tat cofactors and transcriptional elongation.". Curr. Biol. 8 (13): R447–9. PMID 9651670.
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.
Lehmann AR (2001). "The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.". Genes Dev. 15 (1): 15–23. PMID 11156600.
Benhamou S, Sarasin A (2003). "ERCC2/XPD gene polymorphisms and cancer risk.". Mutagenesis 17 (6): 463–9. PMID 12435843.
Clarkson SG, Wood RD (2006). "Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: an appraisal.". DNA Repair (Amst.) 4 (10): 1068–74. doi:10.1016/j.dnarep.2005.07.001. PMID 16054878.