Gene
rtel1
- ID
- ZDB-GENE-050306-11
- Name
- regulator of telomere elongation helicase 1
- Symbol
- rtel1 Nomenclature History
- Previous Names
-
- zgc:113114
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity; DNA helicase activity; and DNA polymerase binding activity. Predicted to be involved in chromosome organization and regulation of DNA metabolic process. Predicted to act upstream of or within DNA recombination; DNA replication; and cellular response to DNA damage stimulus. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive dyskeratosis congenita 5; female breast cancer; gastric adenocarcinoma; high grade glioma (multiple); and lung disease (multiple). Orthologous to human RTEL1 (regulator of telomere elongation helicase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:113114 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Shin et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive dyskeratosis congenita 5 | Alliance | Dyskeratosis congenita, autosomal dominant 4 | 615190 |
| autosomal recessive dyskeratosis congenita 5 | Alliance | Dyskeratosis congenita, autosomal recessive 5 | 615190 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3 | 616373 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR006554 | Helicase-like, DEXD box c2 type |
| Domain | IPR006555 | ATP-dependent helicase, C-terminal |
| Domain | IPR010614 | RAD3-like helicase, DEAD |
| Domain | IPR014001 | Helicase superfamily 1/2, ATP-binding domain |
| Domain | IPR014013 | Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type |
| Domain | IPR049909 | Regulator of telomere elongation helicase 1, harmonin homology domain |
| Family | IPR013020 | ATP-dependent helicase Rad3/Chl1-like |
| Family | IPR030845 | Regulator of telomere elongation helicase 1 |
| Family | IPR045028 | Helicase superfamily 1/2, DinG/Rad3-like |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Length | ATP-dependent helicase, C-terminal | ATP-dependent helicase Rad3/Chl1-like | Helicase-like, DEXD box c2 type | Helicase superfamily 1/2, ATP-binding domain | Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type | Helicase superfamily 1/2, DinG/Rad3-like | P-loop containing nucleoside triphosphate hydrolase | RAD3-like helicase, DEAD | Regulator of telomere elongation helicase 1 | Regulator of telomere elongation helicase 1, harmonin homology domain |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:P0C928
|
1177 | ||||||||||
|
UniProtKB:F1QNW3
|
1177 |
Interactions and Pathways
No data available
Plasmids
No data available