Property Summary

NCBI Gene PubMed Count 51
PubMed Score 224.52
PubTator Score 155.90

Knowledge Summary


No data available


 GO Component (2)

Protein-protein Interaction (9)

Gene RIF (35)

26803811 Deletion in the RTEL1 gene is associated with metastatic glioblastoma.
26581417 Telomere length is associated with Esophageal squamous cell carcinoma risk in a U-shaped pattern and demonstrates that TL-SNPs may not be important in carcinogenesis in Chinese population.
26156397 results suggest a significant association between the RETL1, TREH, and PHLDB1 genes and GBM development in the Han Chinese population
26025130 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
26022962 Heterozygous RTEL1 mutations are responsible for familial pulmonary fibrosis (FPF) and, thereby, extend the clinical spectrum of RTEL1 deficiency. Thus, RTEL1 enlarges the number of telomere-associated genes implicated in FPF.
26014354 RTEL1 single nucleotide polymorphisms are associated with decreased susceptibility to pediatric brain astrocytoma.
25848748 PARN and RTEL1 mutation carriers had shortened leukocyte telomere lengths.
25628358 This work unravels completely unanticipated roles for RTEL1 in RNP trafficking and strongly suggests that defects in RNP biogenesis pathways contribute to the pathology of Hoyeraal-Hreidarsson syndrome
25620558 The shelterin protein TRF2 recruits RTEL1 to telomeres in S phase, which is required to prevent catastrophic t-loop processing by structure-specific nucleases.
25607374 Rare loss-of-function variants in RTEL1 represent a newly defined genetic predisposition for FIP, supporting the importance of telomere-related pathways in pulmonary fibrosis.
25556444 Association between the RTEL1 rs6010620 polymorphism and glioma risk was significant. [Meta-Analysis]
25227808 rs6010620 polymorphism in the RTEL1 gene is associated with increased risk of glioma in both Caucasians and Asians. [Meta-Analysis]
24561255 Authors propose that RTEL1 serves as a human analog of Srs2 to inhibit (CTGCAG) repeat expansions and fragility, likely by unwinding problematic hairpins.
24523019 suggested that RTEL1 rs6010620 polymorphism is likely to be associated with increased glioma risk, which lends further biological plausibility to these findings
24130156 The C-terminal extension of RTEL1, downstream of its catalytic domain and including several HHS-associated mutations, contains a yet unidentified tandem of harmonin-N-like domains.
24009516 The molecular data and the patterns of inheritance are consistent with a hypomorphic mutation in RTEL1 as the underlying basis of the clinical and cellular phenotypes.
23959892 Data show that RTEL1 interacts with the shelterin protein TRF1, indicating a potential recruitment mechanism of RTEL1 to telomeres.
23812731 Results indicate the potential roles of regulator of telomere elongation helicase 1 (RTEL1) and telomerase reverse transcriptase (TERT) in astrocytoma development.
23683922 Two significant Ten candidate tagging SNPs in RTEL1 gene were observed to be associated with glioma risk
23591994 results identify RTEL1 as a novel Hoyeraal-Hreidarsson syndrome-causing gene and highlight its role as a genomic caretaker in humans.
23453664 These biallelic RTEL1 mutations are responsible for a major subgroup ( approximately 29%) of HHS.
23329068 The nonsense mutations both cause truncation of the RTEL1 protein, resulting in loss of the PIP box; this may abrogate an important protein-protein interaction. These findings implicate a new telomere biology gene, RTEL1, in the etiology of DC.
23115063 rs6010620 (RTEL1) was associated with an increased risk of glioma when restricting to cases with family history of brain tumours.
21920947 rs6010620 a genetic variant of RTEL1, was one of 3 genetic variants implicated in a pool of US epidemiologic studies of glioma risk
20847058 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20610542 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20462933 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20368557 Polymorphisms in the LIG4, BTBD2, HMGA2, and RTEL1 genes, which are involved in the double-strand break repair pathway, are associated with glioblastoma multiforme survival.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19578367 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
19578366 On 9p21, rs1412829 near CDKN2B had discovery P = 3.4 x 10(-8), replication P = 0.0038 and combined P = 1.85 x 10(-10). On 20q13.3, rs6010620 intronic to RTEL1 had discovery P = 1.5 x 10(-7), replication P = 0.00035 and combined P = 3.40 x 10(-9).
19578366 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18957201 Study finds that rtel-1 mutant worms and RTEL1-depleted human cells share characteristic phenotypes with yeast srs2 mutants: lethality upon deletion of the sgs1/BLM homolog, hyperrecombination, and DNA damage sensitivity.[RTEL1]

AA Sequence

GTVGAGGEDAGPSQSSGPPHGPAASEWGL                                            1191 - 1219

Text Mined References (52)

PMID Year Title
26803811 2016 Molecular portrait of a rare case of metastatic glioblastoma: somatic and germline mutations using whole-exome sequencing.
26581417 2015 U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control study in Chinese population.
26156397 2015 Association between RTEL1, PHLDB1, and TREH Polymorphisms and Glioblastoma Risk: A Case-Control Study.
26025130 2015 A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
26022962 2015 Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
26014354 2015 CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility.
25848748 2015 Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
25628358 2015 Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.
25620558 2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
25607374 2015 Rare variants in RTEL1 are associated with familial interstitial pneumonia.
25556444 2014 The RTEL1 rs6010620 polymorphism and glioma risk: a meta-analysis based on 12 case-control studies.
25227808 2014 Associations between the rs6010620 polymorphism in RTEL1 and risk of glioma: a meta-analysis of 20,711 participants.
24908248 2014 Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
24561255 2014 RTEL1 inhibits trinucleotide repeat expansions and fragility.
24523019 2014 Regulator of telomere elongation helicase 1 (RTEL1) rs6010620 polymorphism contribute to increased risk of glioma.
24130156 2014 The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.
24115439 2013 RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication.
24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
23812731 2013 RTEL1 and TERT polymorphisms are associated with astrocytoma risk in the Chinese Han population.
23683922 2013 RTEL1 tagging SNPs and haplotypes were associated with glioma development.
23591994 2013 Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
23329068 2013 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
23259602 2012 Genome-wide association scan of dental caries in the permanent dentition.
23115063 2013 Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study.
22886559 2012 Genome-wide association study of glioma and meta-analysis.
22678361 2012 MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism.
21920947 2011 Joint associations between genetic variants and reproductive factors in glioma risk among women.
21531791 2011 Chromosome 7p11.2 (EGFR) variation influences glioma risk.
21350045 2011 Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population.
21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
20847058 2010 Genetic risk profiles identify different molecular etiologies for glioma.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20610542 2010 Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.
20462933 2010 Interaction between 5 genetic variants and allergy in glioma risk.
20368557 2010 Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival.
20203049 2010 RTEL-1 enforces meiotic crossover interference and homeostasis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19578367 2009 Genome-wide association study identifies five susceptibility loci for glioma.
19578366 2009 Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.
18957201 2008 RTEL1 maintains genomic stability by suppressing homologous recombination.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
15210109 2004 Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
10655513 2000 Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster.
10470851 1999 Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.