Family

Regulator of telomere elongation helicase 1 (IPR030845)

Short name: RTEL1

Family relationships

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 [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 telomere integrity [PMID: 24582487, PMID: 24009516, PMID: 24582487]. 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].

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 [PMID: 24009516, PMID: 23453664].

GO terms

Biological Process

GO:0006310 DNA recombination
GO:0006281 DNA repair
GO:0006260 DNA replication
GO:0000723 telomere maintenance

Molecular Function

GO:0004003 ATP-dependent DNA helicase activity

Cellular Component

GO:0005634 nucleus

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
HAMAP