Protein Domain : IPR030845

Type:  Family Name:  Regulator of telomere elongation helicase 1
Description:  Regulator of telomere elongation helicase 1 (RTEL1) is a animal functional analogue of yeast Srs2, which is a DNA helicase and DNA-dependent ATPase involved in DNA repair and checkpoint recovery []. 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 telomere integrity [, , ]. It is recruited by Trf2 to telomeres in S phase to promote T-Loop unwinding []. 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 []. Constitutional mutations in the RTEL1 gene cause Hoyeraal-Hreidarsson syndrome (HHS), a severe form of Dyskeratosis congenita characterised by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction [, ]. Short Name:  RTEL1
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0 Child Features

0 Contains

1 Cross References

Identifier
MF_03065

0 Found In

6 GO Annotations

GO Term Gene Name
GO:0004003 IPR030845
GO:0000723 IPR030845
GO:0006260 IPR030845
GO:0006281 IPR030845
GO:0006310 IPR030845
GO:0005634 IPR030845

6 Ontology Annotations

GO Term Gene Name
GO:0004003 IPR030845
GO:0000723 IPR030845
GO:0006260 IPR030845
GO:0006281 IPR030845
GO:0006310 IPR030845
GO:0005634 IPR030845

1 Parent Features

DB identifier Type Name
IPR013020 Family DNA helicase (DNA repair), Rad3 type

0 Proteins

6 Publications

First Author Title Year Journal Volume Pages PubMed ID
            24009516
            18957201
            23453664
            25628358
            24582487
            25620558