RTEL1: Regulator of Telomere Elongation Helicase 1
A key helicase in telomere maintenance, DNA repair, and genome stability.
Gene Information Card
| Symbol | RTEL1 |
|---|---|
| Full Name | Regulator of Telomere Elongation Helicase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 51750 ncbi.nlm.nih.gov/gene/51750 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9NZ71 |
| OMIM ID | 608833 |
| HGNC ID | 15887 |
| Aliases | C20orf41, NHL, RTEL, RTEL1a, RTEL1b |
Description
RTEL1 encodes a DNA helicase essential for telomere maintenance and genome stability. It regulates telomere elongation by dismantling T-loops and resolving G-quadruplex structures, and participates in DNA repair pathways including homologous recombination and interstrand crosslink repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis congenita, autosomal recessive 5 | Loss-of-function mutations impair telomere maintenance, leading to premature telomere shortening and bone marrow failure. | ClinVar, OMIM |
| Hoyeraal-Hreidarsson syndrome | Severe RTEL1 mutations cause this multisystem disorder with cerebellar hypoplasia, microcephaly, and immunodeficiency. | ClinVar, OMIM |
| Pulmonary fibrosis and bone marrow failure, telomere-related | Heterozygous RTEL1 mutations predispose to adult-onset pulmonary fibrosis and bone marrow failure. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 8.7 | Medium |
| Lung | 6.1 | Medium |
| Brain | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.5 | Embryonic kidney cells |
| HeLa | 9.8 | Cervical cancer cells |
| K562 | 7.2 | Leukemia cells |
| HepG2 | 5.6 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3791G>A (p.Arg1264His) | Missense | Rare | Reduced helicase activity; associated with dyskeratosis congenita |
| c.2920C>T (p.Arg974Trp) | Missense | Rare | Impaired telomere maintenance; linked to Hoyeraal-Hreidarsson syndrome |
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Loss of function; pulmonary fibrosis risk |
Mutation functional classification
Loss of Function (LOF)
Most RTEL1 disease-associated mutations are loss-of-function, reducing helicase activity and telomere maintenance.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some heterozygous mutations may exert dominant-negative effects, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity | • telomere maintenance |
| • DNA repair | • G-quadruplex DNA binding |
| • ATP binding | • homologous recombination |
Pathways
• Telomere maintenance
• Homologous recombination repair
• Interstrand crosslink repair
Protein Summary
RTEL1 is a 1219-amino acid DNA helicase belonging to the iron-sulfur cluster family. It contains helicase domains and a C-terminal PIP box for PCNA interaction. The protein unwinds DNA secondary structures such as T-loops and G-quadruplexes, facilitating telomere replication and repair.
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