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TFIIH basal transcription factor complex helicase XPD subunit; basic transcription factor 2 80 kD subunit; BTF2 p80; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH basal transcription factor complex 80 kD subunit; TFIIH 80 kD subunit; TFIIH p80; Xeroderma pigmentosum group D-complementing protein (ERCC2, XPD, XPDC)

Function: - ATP-dependent 5'-3' DNA helicase - component of the core-TFIIH basal transcription factor - one of two helicase activities of TFIIH - the helicase activity is 5'-3', opposite in polarity to the other helicase p89TFIIH (XP B-correcting protein) - role in nucleotide excision repair of DNA by opening DNA around the damage, & in RNA transcription by RNA polymerase 2 by anchoring the CDK-activating kinase (CAK) complex to the core-TFIIH complex - role in the regulation of vitamin-D receptor activity - might also have a role in aging process - may play a role in the generation of skin cancers - interaction with p44 results in stimulation of the 5'->3' helicase activity Cofactor: Mg+2 Structure: - belongs to the helicase family, RAD3/XPD subfamily - contains 1 helicase ATP-binding domain Compartment: nucleus Pathology: - defects in ERCC2 are the cause of a) xeroderma pigmentosum complementation group D (XP-D) b) trichothiodystrophy (photosensitive) c) cerebro-oculo-facio-skeletal syndrome type 2

Related

TFIIH basal transcription factor complex helicase XPB subunit; basic transcription factor 2 89 kD subunit; BTF2 p89; DNA excision repair protein ERCC-3; DNA repair protein complementing XP-B cells; TFIIH basal transcription factor complex 89 kD subunit; TFIIH 89 kD subunit; TFIIH p89; Xeroderma pigmentosum group B-complementing protein (ERCC3, XPB, XPBC, p89TFIIH) XP D-correcting protein gene, ERCC-2 or RAD3

General

excision repair cross complement (ERCC) or excision repair cross-complementing rodent repair deficiency, complementation group helicase (DNA unwinding protein, DNA untwisting protein) transcription factor IIH subunit Xeroderma pigmentosum group complementing protein

Properties

SIZE: MW = 80-87 kD MOTIF: DNA-binding motif MOTIF: helix-loop-helix NAME: helix-loop-helix FOR-BINDING-VIA: helix-loop-helix active site MOTIF: P-loop FOR-BINDING-OF: adenosine triphosphate binding site SITE: 1-248 FOR-BINDING-OF: general transcription factor IIH subunit 3 MOTIF: binding site SITE: 1-162 FOR-BINDING-OF: TFIIH basal transcription factor complex helicase XPB subunit DNA repair protein complementing XP-G cells general transcription factor IIH subunit 2 binding site SITE: 342-760 FOR-BINDING-OF: transcription factor IIH 62 kD subunit MOTIF: binding site SITE: 342-434 FOR-BINDING-OF: DNA repair protein complementing XP-G cells

References

  1. Bootsma D & Hoeijmakers JH DNA repair. Engagement with transcription. Nature 363:114 1993 PMID: 8483493
  2. Lehmann AR. Nucleotide excision repair and the link with transcription. Trends Biochem Sci. 1995 Oct;20(10):402-5. Review. PMID: 8533152
  3. Winkler GS, Vermeulen W, Coin F, Egly JM, Hoeijmakers JH, Weeda G. Affinity purification of human DNA repair/transcription factor TFIIH using epitope-tagged xeroderma pigmentosum B protein. J Biol Chem. 1998 Jan 9;273(2):1092-8. PMID: 9422774
  4. UniProt :accession P18074
  5. Atlas of genetics & cytogenetics in oncology & Haematology http://atlasgeneticsoncology.org/genes/XPDID297.html
  6. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC2
  7. Allelic variations of the XP genes http://www.xpmutations.org/C2
  8. NIEHS-SNPs http://egp.gs.washington.edu/data/ercc2/

Component-of

transcription factor IIH (TFIIH) or BTF2

Databases & Figures

OMIM correlations UniProt P18074 PFAM correlations Entrez Gene 2068 Kegg hsa:2068 ENZYME 3.6.4.12 Model for nucleotide excision repair (v2)