RTEL1 Gene Summary [Human]
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. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream 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. [provided by RefSeq, Sep 2013]
Details
| Type | Protein Coding |
| Official Symbol | RTEL1 |
| Official Name | regulator of telomere elongation helicase 1 [Source:HGNC Symbol;Acc:HGNC:15888] |
| Ensembl ID | ENSG00000258366 |
| Bio databases IDs | |
| Aliases | regulator of telomere elongation helicase 1 |
| Synonyms | AI451565, C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, regulator of telomere elongation helicase 1, RGD1306721, RTEL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RTEL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- DNA repair helicase (rad3)
- helicase
- helicase superfamily c-terminal domain
- harmonin_N_like
- ATP binding
- enzyme binding
- enzyme
- protein binding
- DNA helicase
- helicase domain
- helicase C-terminal domain
- ATPase domain
- N-terminal helicase domain of the DEAD-box helicase superfamily
- DEAD-like helicases superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive dyskeratosis congenita type 5
- acute myeloid leukemia
- hereditary disorder
- epithelial cancer
- telomere syndrome
- inflammatory bowel disease
- telomere-related pulmonary fibrosis and/or bone marrow failure 3
- familial idiopathic pulmonary fibrosis
- contact dermatitis
- colorectal cancer
regulates
role in cell
- number
- dysfunction
- maintenance
- loss
- fusion
- formation in
- processing
- disassembly in
- disassembly
- breakage
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- nuclear envelope
- nuclear speckles
- telomeres
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RTEL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- DNA duplex unwinding
- telomere maintenance
- regulation of double-strand break repair via homologous recombination
- replication fork processing
- strand displacement
- positive regulation of telomere maintenance
- telomere maintenance in response to DNA damage
- negative regulation of DNA recombination
Cellular Component
Where in the cell the gene product is active
- chromosome, telomeric region
- nucleus
- nuclear membrane
- nuclear speck
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- DNA binding
- ATP binding
- DNA helicase activity
- DNA polymerase binding
- protein binding
- metal ion binding
- 4 iron, 4 sulfur cluster binding