RTEL1

RTEL1
Identifiers
Aliases	RTEL1, C20orf41, DKCA4, DKCB5, NHL, RTEL, PFBMFT3, regulator of telomere elongation helicase 1
External IDs	OMIM: 608833; MGI: 2139369; HomoloGene: 13168; GeneCards: RTEL1; OMA:RTEL1 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	63,696,253 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	180,998,409 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; right hemisphere of cerebellum; ; pituitary gland; ; gastric mucosa; ; anterior pituitary; ; body of uterus; ; Descending thoracic aorta; ; ascending aorta; ; right lobe of thyroid gland; ; muscle layer of sigmoid colon;
	Top expressed in
	spermatocyte; ; genital tubercle; ; hand; ; tail of embryo; ; blastocyst; ; ventricular zone; ; morula; ; neural layer of retina; ; epiblast; ; spermatid;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; protein binding; ATP binding; helicase activity; hydrolase activity; hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides; DNA binding; iron-sulfur cluster binding; nucleic acid binding; metal ion binding; 4 iron, 4 sulfur cluster binding; DNA helicase activity; DNA polymerase binding;
Cellular component	nucleoplasm; nucleus; telomere;
Biological process	DNA duplex unwinding; positive regulation of telomeric loop disassembly; DNA recombination; nucleobase-containing compound metabolic process; positive regulation of telomere capping; negative regulation of telomere maintenance in response to DNA damage; DNA replication; positive regulation of telomere maintenance; mitotic telomere maintenance via semi-conservative replication; cellular response to DNA damage stimulus; telomere maintenance in response to DNA damage; replication fork processing; positive regulation of telomere maintenance via telomere lengthening; telomere maintenance; DNA repair; regulation of double-strand break repair via homologous recombination; strand displacement; negative regulation of DNA recombination; telomeric loop disassembly; negative regulation of t-circle formation;
	Sources:Amigo / QuickGO
Orthologs
	51750
	269400
	ENSG00000258366
	ENSMUSG00000038685
	Q9NZ71
	Q0VGM9
	NM_032957; NM_001283009; NM_001283010; NM_016434; NM_015647
NM_001001882; NM_001166665; NM_001166666; NM_001166667; NM_001166668;
	NM_001363071
	NP_001269938; NP_001269939; NP_057518; NP_116575
NP_001001882; NP_001160137; NP_001160138; NP_001160139; NP_001160140;
	NP_001350000
	Wikidata
View/Edit Human	View/Edit Mouse

Regulator of telomere elongation helicase 1 is a protein that in humans is encoded by the RTEL1 gene.^[5]

Gene

Read-through transcription of the RTEL1 gene into the neighboring downstream TNFRSF6B 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.^[6]

Function

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.^[6]

Clinical significance

Mutations in this gene have been associated with dyskeratosis congenita and Hoyeraal–Hreidarsson syndrome.^[6]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000258366 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038685 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Hourvitz N, Awad A, Tzfati Y (February 2024). "The many faces of the helicase RTEL1 at telomeres and beyond". Trends in Cell Biology. 34 (2): 109–121. doi:10.1016/j.tcb.2023.07.002. PMID 37532653.
1 2 3 "RTEL1". Reference Sequence Collection; National Center for Biotechnology Information (NCBI). U.S. National Library of Medicine (NLM).

Hassani MA, Murid J, Yan J (January 2023). "Regulator of telomere elongation helicase 1 gene and its association with malignancy". Cancer Reports. 6 (1) e1735. Hoboken, N.J. doi:10.1002/cnr2.1735. PMC 9875622. PMID 36253342.
Zhang C, Lu Y, Zhang X, Yang D, Shang S, Liu D, et al. (July 2016). "The role of the RTEL1 rs2297440 polymorphism in the risk of glioma development: a meta-analysis". Neurological Sciences. 37 (7): 1023–1031. doi:10.1007/s10072-016-2531-z. PMID 26939676.
Wu Y, Tong X, Tang LL, Zhou K, Zhong CH, Jiang S (2014). "Associations between the rs6010620 polymorphism in RTEL1 and risk of glioma: a meta-analysis of 20,711 participants". Asian Pacific Journal of Cancer Prevention. 15 (17): 7163–7167. doi:10.7314/apjcp.2014.15.17.7163. PMID 25227808.
Zhao W, Bian Y, Zhu W, Zou P, Tang G (June 2014). "Regulator of telomere elongation helicase 1 (RTEL1) rs6010620 polymorphism contribute to increased risk of glioma". Tumour Biology. 35 (6): 5259–5266. doi:10.1007/s13277-014-1684-8. PMID 24523019.
Du SL, Geng TT, Feng T, Chen CP, Jin TB, Chen C (2014). "The RTEL1 rs6010620 polymorphism and glioma risk: a meta-analysis based on 12 case-control studies". Asian Pacific Journal of Cancer Prevention. 15 (23): 10175–10179. doi:10.7314/apjcp.2014.15.23.10175. PMID 25556444.
Le Guen T, Jullien L, Schertzer M, Lefebvre A, Kermasson L, de Villartay JP, et al. (December 2013). "[RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability]". Medecine Sciences. 29 (12). Paris: 1138–1144. doi:10.1051/medsci/20132912018. PMID 24356145.
Garcia CK, Talbert JL (2025). "Pulmonary Fibrosis Predisposition Overview". In Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds.). GeneReviews^®. Seattle (WA): University of Washington, Seattle. PMID 20301408.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000258366 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000038685 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Hourvitz_2024-5] Hourvitz N, Awad A, Tzfati Y (February 2024). "The many faces of the helicase RTEL1 at telomeres and beyond". Trends in Cell Biology. 34 (2): 109–121. doi:10.1016/j.tcb.2023.07.002. PMID 37532653.

[RTEL1_NLM-6] 1 2 3 "RTEL1". Reference Sequence Collection; National Center for Biotechnology Information (NCBI). U.S. National Library of Medicine (NLM).

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[6]

Gene

Function

Clinical significance

References

Further reading