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)
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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
Structure
Compartment
Pathology
- defects in ERCC2 are the cause of
More general terms
- helicase (DNA unwinding protein, DNA untwisting protein)
- transcription factor IIH subunit
- excision repair cross complement
- Xeroderma pigmentosum group complementing protein
Additional terms
Component of
References
- ↑ Bootsma D & Hoeijmakers JH DNA repair. Engagement with transcription. Nature 363:114 1993 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8483493
- ↑ Lehmann AR. Nucleotide excision repair and the link with transcription. Trends Biochem Sci. 1995 Oct;20(10):402-5. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8533152
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/9422774
- ↑ UniProt http://www.uniprot.org/uniprot/P18074.html
- ↑ Atlas of genetics & cytogenetics in oncology & Haematology http://atlasgeneticsoncology.org/genes/XPDID297.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=ERCC2
- ↑ Allelic variations of the XP genes http://www.xpmutations.org/C2
- ↑ NIEHS-SNPs http://egp.gs.washington.edu/data/ercc2/
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2068
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2068
- OMIM: https://mirror.omim.org/entry/126340
- OMIM: https://mirror.omim.org/entry/278730
- OMIM: https://mirror.omim.org/entry/601675
- OMIM: https://mirror.omim.org/entry/610756
- UniProt: http://www.uniprot.org/uniprot/P18074.html