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 have several functions, including 4 iron, 4 sulfur cluster binding activity; ATP binding activity; and DNA helicase activity. Predicted to be involved in DNA metabolic process and DNA replication. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in autosomal recessive dyskeratosis congenita 5. 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