RTEL1
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.
Overview
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).
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
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.
- 3 · How drugs use it
No product in this corpus aims at RTEL1 yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
External identifiers
Sources: HGNC HGNC:15888 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9NZ71 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000258366 (association with cancer (MONDO_0004992) 0.58; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.55, myeloproliferative neoplasm 0.55, leukaemia 0.57 (GraphQL API, CC0))
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).
- 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
top- 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.
Latest papers
topQuery for this target: (TITLE:"RTEL1" OR ABSTRACT:"RTEL1" OR TITLE:"regulator of telomere elongation helicase 1" OR ABSTRACT:"regulator of telomere elongation helicase 1" OR TITLE:"Regulator of telomere elongation helicase 1" OR ABSTRACT:"Regulator of telomere elongation helicase 1" OR TITLE:"bK3184A7.3" OR ABSTRACT:"bK3184A7.3" OR TITLE:"DKFZP434C013" OR ABSTRACT:"DKFZP434C013" OR TITLE:"KIAA1088" OR ABSTRACT:"KIAA1088") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about RTEL1, not a curated reading list.
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