RAD3-like helicase, DEAD
IPR010614
Definition
This domain is found in the RAD3-like DNA-binding helicase Regulator of telomere elongation helicase 1 homolog from Drosophila melanogaster (Rtel1), General transcription and DNA repair factor IIH helicase subunit XPD from Saccharomyces cerevisiae (RAD3) and similar proteins that are seemingly ubiquitous, including members of eukaryotic, bacterial and archaeal origin. Regulator of telomere elongation helicase 1 (Rtel1) is the animal functional analogue of yeast Srs2, which is a DNA helicase and DNA-dependent ATPase involved in DNA repair and checkpoint recovery PMID:18957201. Rtel1 is an essential DNA helicase that disassembles a variety of DNA secondary structures to facilitate DNA replication, repair, and recombination processes, and to maintain both telomeric and genomic stability [[cite:PMID:35320499], [cite:PMID:24582487], [cite:PMID:24009516], [cite:PMID:34644293]]. It is recruited by Trf2 to telomeres in S phase to promote T-Loop unwinding PMID:25620558. It is also required for the export and the correct cytoplasmic trafficking of the small nuclear (sn) RNA pre-U2, a component of the major spliceosome complex PMID:25628358. Human Rtel1 is implicated in the etiology of Dyskeratosis congenital (DC, is an inherited bone marrow failure and cancer predisposition syndrome) PMID:23329068. Point mutations in its helicase domains, and truncations which result in loss of its C terminus have been discovered in DC families. It acts as anti-recombinase and antagonises homologous recombination by promoting the disassembly of D loop recombination intermediates in a reaction dependent upon ATP hydrolysis PMID:18957201. Rtel1 is also a candidate gene influencing glioma susceptibility [[cite:PMID:18957201], [cite:PMID:19578366], [cite:PMID:22886559]]. RAD3 is involved in nucleotide excision repair, and forms part of the transcription factor TFIIH in yeast PMID:10915862.
6 human proteins with this domain
Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.
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