RTEL1 Gene

Name	regulator of telomere elongation helicase 1
Description	This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRTEL1 is a multifunctional DNA helicase that plays a central role in telomere maintenance and genome stability. Early studies in yeast and invertebrate models demonstrated that RTEL1 (and its homolog RTEL‐1) prevents inappropriate homologous recombination by disassembling recombination intermediates such as D loops, thereby preserving genomic integrity and suppressing tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Subsequent work in humans has established that RTEL1 is essential for telomere protection; it facilitates the unwinding of telomeric T-loops, preserves the long single-stranded G-overhang necessary for proper POT1 binding, and supports telomerase-dependent telomere elongation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "6"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its telomeric roles, RTEL1 functions in the resolution of complex DNA structures that can arise during replication and repair. Its helicase activity dismantles aberrant recombination intermediates and unwinds hairpin structures within trinucleotide repeats, thereby blocking repeat expansions—a mechanism reminiscent of the yeast Srs2 helicase."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Moreover, RTEL1 regulates R-loop dynamics by binding to G-quadruplex structures present in telomeric repeat-containing RNAs (TERRA), and it may coordinate with factors such as SLX4 to resolve replication–transcription conflicts genome-wide."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " RTEL1 is also implicated in RNA biogenesis; mutations in RTEL1 disrupt the export and cytoplasmic trafficking of pre-U2 snRNA, adversely affecting splicing."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGermline mutations and common genetic variants in RTEL1 have been linked to a broad spectrum of human diseases. Inherited mutations in RTEL1 underlie severe telomere biology disorders including dyskeratosis congenita and its variant Hoyeraal-Hreidarsson syndrome, where dysfunctional RTEL1 leads to telomere shortening, telomeric circle accumulation, and genome instability."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "14"}]}, {"type": "t", "text": " In addition, heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis"}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "15", "end_ref": "17"}]}, {"type": "t", "text": ", and common RTEL1 single nucleotide polymorphisms have emerged as low-penetrance risk alleles for glioma and pediatric brain tumors."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "20"}]}, {"type": "t", "text": " Furthermore, analysis of RTEL1 domains has revealed that its C-terminal extension contains previously unrecognized interaction motifs that are critical for engaging with telomeric proteins and ensuring proper telomerase action."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "21"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nCollectively, these studies reveal that RTEL1 functions as a versatile genomic caretaker. By regulating telomere integrity, disassembling aberrant recombination intermediates, resolving secondary DNA structures, and ensuring correct RNA processing, RTEL1 safeguards DNA replication and repair processes. Dysfunction of RTEL1, whether through missense mutations, truncations, or common single nucleotide variants, perturbs telomere homeostasis and genome stability, thereby predisposing to cancer, telomere syndromes, and fibrotic lung diseases."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "22"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Louise J Barber, Jillian L Youds, Jordan D Ward, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RTEL1 maintains genomic stability by suppressing homologous recombination."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2008.08.016"}], "href": "https://doi.org/10.1016/j.cell.2008.08.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18957201"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18957201"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Margaret Wrensch, Robert B Jenkins, Jeffrey S Chang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.408"}], "href": "https://doi.org/10.1038/ng.408"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19578366"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19578366"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Sanjay Shete, Fay J Hosking, Lindsay B Robertson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study identifies five susceptibility loci for glioma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.407"}], "href": "https://doi.org/10.1038/ng.407"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19578367"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19578367"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Zhong Deng, Galina Glousker, Aliah Molczan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1300600110"}], "href": "https://doi.org/10.1073/pnas.1300600110"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23959892"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23959892"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Rosa M Porreca, Galina Glousker, Aya Awad, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gky173"}], "href": "https://doi.org/10.1093/nar/gky173"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29522136"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29522136"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Aya Awad, Galina Glousker, Noa Lamm, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkaa503"}], "href": "https://doi.org/10.1093/nar/gkaa503"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32542379"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32542379"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Aisling Frizzell, Jennifer H G Nguyen, Mark I R Petalcorin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RTEL1 inhibits trinucleotide repeat expansions and fragility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2014.01.034"}], "href": "https://doi.org/10.1016/j.celrep.2014.01.034"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24561255"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24561255"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Wei Wu, Rahul Bhowmick, Ivan Vogel, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Struct Mol Biol (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41594-020-0419-3"}], "href": "https://doi.org/10.1038/s41594-020-0419-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32398829"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32398829"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Michael Schertzer, Karina Jouravleva, Mylene Perderiset, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-013-1265-8"}], "href": "https://doi.org/10.1007/s00439-013-1265-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23329068"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23329068"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Amanda J Walne, Tom Vulliamy, Michael Kirwan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Constitutional mutations in RTEL1 cause severe dyskeratosis congenita."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2013.02.001"}], "href": "https://doi.org/10.1016/j.ajhg.2013.02.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23453664"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23453664"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Tangui Le Guen, Laurent Jullien, Fabien Touzot, et al. 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"}, {"type": "b", "children": [{"type": "t", "text": "Regulator of telomere length 1 ("}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "RTEL1"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": ") mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur Respir J (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1183/13993003.00508-2018"}], "href": "https://doi.org/10.1183/13993003.00508-2018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30523160"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30523160"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Fiorella Ghisays, Aitor Garzia, Hexiao Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "RTEL1 influences the abundance and localization of TERRA RNA."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-021-23299-2"}], "href": "https://doi.org/10.1038/s41467-021-23299-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34021146"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34021146"}]}]}]}
Synonyms	C20ORF41, DKCB5, PFBMFT3, DKCA4, NHL, RTEL
Proteins	RTEL1_HUMAN
NCBI Gene ID	51750
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

RTEL1 has 6,538 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 116 datasets.

Click the + buttons to view associations for RTEL1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

RTEL1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RTEL1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of RTEL1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of RTEL1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of RTEL1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of RTEL1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of RTEL1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of RTEL1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of RTEL1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of RTEL1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of RTEL1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of RTEL1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of RTEL1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with RTEL1 protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of RTEL1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of RTEL1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of RTEL1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with RTEL1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of RTEL1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing RTEL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing RTEL1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with RTEL1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with RTEL1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of RTEL1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with RTEL1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with RTEL1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with RTEL1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with RTEL1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of RTEL1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving RTEL1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving RTEL1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with RTEL1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with RTEL1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with RTEL1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with RTEL1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with RTEL1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at RTEL1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of RTEL1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of RTEL1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing RTEL1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with RTEL1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.