InterPro : IPR001945

Name  Xeroderma pigmentosum group D protein Short Name  XPGD_DNA_repair
Type  Family Description  Xeroderma pigmentosum (XP) []is a human autosomal recessive disease, characterised by a high incidence of sunlight-induced skin cancer. People's skin cells with this condition are hypersensitive to ultraviolet light, due to defects in the incision step of DNA excision repair. There are a minimum of seven genetic complementation groups involved in this pathway: XP-A to XP-G. XP-G is one of the most rare and phenotypically heterogeneous of XP, showing anything from slight to extreme dysfunction in DNA excision repair [, ]. XP-G can be corrected by a 133 Kd nuclear protein, XPGC []. XPGC is an acidic protein that confers normal UV resistance in expressing cells []. It is a magnesium-dependent, single-strand DNA endonuclease that makes structure-specific endonucleolytic incisions in a DNA substrate containing a duplex region and single-stranded arms [, ]. XPGC cleaves one strand of the duplex at the border with the single-stranded region [].XPG belongs to a family of proteins that includes RAD2 from Saccharomyces cerevisiae(Baker's yeast) and rad13 from Schizosaccharomyces pombe(Fission yeast), which are single-stranded DNA endonucleases [, ]; mouse and human FEN-1, a structure-specific endonuclease; RAD2 from fission yeast and RAD27 from budding yeast; fission yeast exo1, a 5'-3' double-stranded DNA exonuclease that may act in a pathway that corrects mismatched base pairs; yeast DHS1, and yeast DIN7. Sequence alignment of this family of proteins reveals that similarities are largely confined to two regions. The first is located at the N-terminal extremity (N-region) and corresponds to the first 95 to 105 amino acids. The second region is internal (I-region) and found towards the C terminus; it spans about 140 residues and contains a highly conserved core of 27 amino acids that includes a conserved pentapeptide (E-A-[DE]-A-[QS]). It is possible that the conserved acidic residues are involved in the catalytic mechanism of DNA excision repair in XPG. The amino acids linking the N- and I-regions are not conserved.The XP group D gene product (XPD) is a helicase that is required for nucleotide excision repair, and is also one of the components of basal transcription factor TFIIH [, ]. DNA repair defects in the XPD group are associated with the clinical features of XP and trichothiodystrophy (TTD), which is characterised by sulphur-deficient brittle hair and a variety of other associated abnormalities, but no skin cancer [].XPD belongs to a family of ATP-dependent helicases that are characterised by a 'D-E-A-H' motif []. This resembles the 'D-E-A-D-box' of other known helicases, which represents a special version of the B motif of ATP-binding proteins. In XPD, His replaces the second Asp.

Sequence Features

GO Displayer


InterPro protein domain ID --> Contigs



0 Child Features

5 Contains

Id Name Short Name Type
IPR010614 DEAD2 DEAD_2 Domain
IPR006555 ATP-dependent helicase, C-terminal ATP-dep_Helicase_C Domain
IPR010643 Domain of unknown function DUF1227 DUF1227 Domain
IPR002464 DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site DNA/RNA_helicase_DEAH_CS Conserved_site
IPR006554 Helicase-like, DEXD box c2 type Helicase-like_DEXD_c2 Domain

0 Found In

1 Parent Features

Id Name Short Name Type
IPR013020 DNA helicase (DNA repair), Rad3 type DNA_helicase_DNA-repair_Rad3 Family

8 Publications

First Author Title Year Journal Volume Pages
Tanaka K Xeroderma pigmentosum and nucleotide excision repair of DNA. 1994 Trends Biochem Sci 19 83-6
Kobayashi T Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 1997 Hum Mutat 9 322-31
O'Donovan A Isolation of active recombinant XPG protein, a human DNA repair endonuclease. 1994 J Biol Chem 269 15965-8
Broughton BC Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. 1994 Nat Genet 7 189-94
Habraken Y Yeast excision repair gene RAD2 encodes a single-stranded DNA endonuclease. 1993 Nature 366 365-8
O'Donovan A XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair. 1994 Nature 371 432-5
Harosh I The RAD3 gene is a member of the DEAH family RNA helicase-like protein. 1991 Nucleic Acids Res 19 6331
Carr AM Evolutionary conservation of excision repair in Schizosaccharomyces pombe: evidence for a family of sequences related to the Saccharomyces cerevisiae RAD2 gene. 1993 Nucleic Acids Res 21 1345-9

To cite PlanMine, please refer to the following publication:

Rozanski, A., Moon, H., Brandl, H., Martín-Durán, J. M., Grohme, M., Hüttner, K., Bartscherer, K., Henry, I., & Rink, J. C.
PlanMine 3.0—improvements to a mineable resource of flatworm biology and biodiversity
Nucleic Acids Research, gky1070. doi:10.1093/nar/gky1070 (2018)