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Gene · 51750

RTEL1: regulator of telomere elongation helicase 1

12 sourcesgene-search-2026-11-11-0.2.0

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ConductScience Library. RTEL1: regulator of telomere elongation helicase 1. Genes, record 51750. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/51750

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Gene

Symbol
RTEL1
HGNC
Name
regulator of telomere elongation helicase 1
HGNC
NCBI Gene ID
51750
NCBI Gene
HGNC ID
HGNC:15888
HGNC
Ensembl
ENSG00000258366
NCBI Gene
Aliases
C20orf41, DKCA4, DKCB5, DKFZP434C013, KIAA1088, NHL, PFBMFT3, RTEL, bK3184A7.3
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
Q9NZ71Regulator of telomere elongation helicase 11,2193Ensembl, GeneID, HGNC

Source UniProt

Patents29

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026027383 A2026-02-1839Q9NZ71Espacenet
EP 4640849 A22025-10-291320Q9NZ71Espacenet
EP 4641201 A22025-10-298903Q9NZ71Espacenet
JP 2025519096 A2025-06-241320Q9NZ71Espacenet
JP 2025517969 A2025-06-128903Q9NZ71Espacenet
EP 4464338 A22024-11-20229Q9NZ71Espacenet
JP 2024123008 A2024-09-108161Q9NZ71Espacenet
US 11680268 B22023-06-20229Q9NZ71Espacenet
US 11597924 B22023-03-0753Q9NZ71Espacenet
JP 2023507989 A2023-02-2839Q9NZ71Espacenet

1 to 10 of 29

See all 29 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants1,633

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleRTEL1 papersNewest fiscal year
P30CA008748Cancer Center Support Grant242025
ZIAAG000741Roles Of DNA Helicases In Pathways Required For Maintenance Of Genomic Stability242025
P50CA097257Brain Tumor SPORE Grant222025
ZIAAG000753Fanconi Anemia Pathway202025
ZIACP010190Genetic Epidemiology of Telomere Maintenance and Cancer Etiology182025
ZIAAG000752Model Genetic Systems to Study DNA Repair152025
P30CA016672Cancer Center Support Grant132025
P30CA015083Mayo Clinic Comprehensive Cancer Center Support Grant112025
ZIACP010144Clinical Genetic Studies of Familial and Hereditary Cancer Syndromes112025
P30CA076292Moffitt Cancer Center Support Grant92025

1 to 10 of 1,633Source NIH's project files

See all 1,633 nih grants

Papers1,764

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
A Novel Pathogenic Variant in RTEL1 Causes Dyskeratosis Congenita/Hoyeraal-Hreidarsson Syndrome: A Report of Two Cases.J Pediatr Hematol Oncol202642814562PubTator, text miningPubMed
Genomic and computational analysis of variants in telomere regulatory genes in subjects with bone marrow failure.Eur J Hum Genet202642736390PubTator, text miningPubMed
RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.Nat Commun202642649225PubTator, text miningPubMed
The pleiotropic landscape of rare variant associations with multiple cancers in large biobanks.HGG Adv202642619260PubTator, text miningPubMed
Liver-associated findings and outcomes in a telomere biology disorders clinic.Hepatol Commun202642612102PubTator, text miningPubMed
FANCJ and RTEL1 facilitate pre-replication complex disassembly following replisome collision.Cell Rep202642604558PubTator, text miningPubMed
Next-Generation Sequencing in Pulmonary Fibrosis: Translational Promise and Current Clinical Limitations.Curr Issues Mol Biol202642510961PubTator, text miningPubMed
Human length telomeres restrict the regenerative potential of hematopoietic stem cells in mice.J Biol Chem202642497987PubTator, text miningPubMed
Genetic Determinants of Telomere Length and Their Role in Human Disease: Molecular Mechanisms and Underrepresented Populations' Perspectives.Biomedicines202642351635PubTator, text miningPubMed
Telomere biology disorders associated with childhood interstitial lung disease.Clin Exp Pediatr202642316340PubTator, text miningPubMed

1 to 10 of 1,764

See all 1,764 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this gene from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/genes/v1/51750

GET https://conductscience.org/api/genes/v1/51750/patents?page=2