Identity
HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
C20orf41,DKCA4,DKCB5,NHL,PFBMFT3,RTEL
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51750
MIM: 608833
HGNC: 15888
Ensembl: ENSG00000258366
Variants:
dbSNP: 51750
ClinVar: 51750
TCGA: ENSG00000258366
COSMIC: RTEL1
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38153196 | 2024 | Harmonin homology domain-mediated interaction of RTEL1 helicase with RPA and DNA provides insights into its recruitment to DNA repair sites. | 1 |
| 38532312 | 2024 | High expression of RTEL1 predicates worse progression in gliomas and promotes tumorigenesis through JNK/ELK1 cascade. | 0 |
| 38653581 | 2024 | Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure. | 1 |
| 38153196 | 2024 | Harmonin homology domain-mediated interaction of RTEL1 helicase with RPA and DNA provides insights into its recruitment to DNA repair sites. | 1 |
| 38532312 | 2024 | High expression of RTEL1 predicates worse progression in gliomas and promotes tumorigenesis through JNK/ELK1 cascade. | 0 |
| 38653581 | 2024 | Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure. | 1 |
| 36253342 | 2023 | Regulator of telomere elongation helicase 1 gene and its association with malignancy. | 2 |
| 37328761 | 2023 | Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder. | 4 |
| 37988793 | 2023 | RTEL1 is upregulated in colorectal cancer and promotes tumor progression. | 0 |
| 38001404 | 2023 | RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children. | 0 |
| 38132118 | 2023 | Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase. | 1 |
| 36253342 | 2023 | Regulator of telomere elongation helicase 1 gene and its association with malignancy. | 2 |
| 37328761 | 2023 | Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder. | 4 |
| 37988793 | 2023 | RTEL1 is upregulated in colorectal cancer and promotes tumor progression. | 0 |
| 38001404 | 2023 | RTEL1 gene polymorphisms and neuroblastoma risk in Chinese children. | 0 |
Citation
Dessen P
RTEL1 (regulator of telomere elongation helicase 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/gene/882
