# RTEL1

Source: https://onco.cc/targets/rtel1/  
OnCo record `rtel1` (Target). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

RTEL1 (Regulator of telomere elongation helicase 1) is an enzyme. The public catalogues list it as a DNA repair gene, and the evidence so far is association rather than a proven role. Tied to Leukaemia, Myeloproliferative neoplasms and Acute myeloid leukaemia.

## Summary

A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates.

Open Targets scores its association with cancer at 0.58 (direct and indirect evidence; datatypes literature 0.87, genetic association 0.54, genetic literature 0.76).

## Fields

- Kind: Target
- Last checked: 2026-09-23
- Also known as: regulator of telomere elongation helicase 1; Regulator of telomere elongation helicase 1; bK3184A7.3; DKFZP434C013; KIAA1088; C20orf41
- Tags: cancer-genes-wave
- Symbol: RTEL1
- Class: enzyme
- Biology: A probable ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere. Location: Nucleus (UniProt). Locus 20q13.33 (HGNC).
- Where found: Leukaemia: Open Targets association 0.57 with leukaemia (MONDO_0005059); Myeloproliferative neoplasms: Open Targets association 0.55 with myeloproliferative neoplasm (MONDO_0020076); Acute myeloid leukaemia: Open Targets association 0.55 with acute myeloid leukaemia (MONDO_0018874)

## Notes

- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: UniProt keyword "DNA repair". Evidence tier "association-only" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.

## Sources

- HGNC HGNC:15888: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:15888
- UniProt Q9NZ71: https://www.uniprot.org/uniprotkb/Q9NZ71/entry
- NCBI Gene 51750: https://www.ncbi.nlm.nih.gov/gene/51750
- Ensembl ENSG00000258366: https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000258366

## Connected records

- collections: [Open Targets Platform](https://onco.cc/collections/open-targets/)
- cancers: [Acute myeloid leukaemia](https://onco.cc/cancers/aml/), [Leukaemia (all types)](https://onco.cc/cancers/leukaemia/), [Myeloproliferative neoplasms (PV, ET, myelofibrosis)](https://onco.cc/cancers/myeloproliferative-neoplasms/)

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JSON: https://onco.cc/api/v1/entities/rtel1.json