Gene
toe1
- ID
- ZDB-GENE-070912-533
- Name
- target of EGR1, exonuclease
- Symbol
- toe1 Nomenclature History
- Previous Names
-
- si:dkey-40i22.3
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have 3'-5'-exoribonuclease activity and snRNA binding activity. Involved in brain development and neuron cellular homeostasis. Predicted to localize to Cajal body and cytoplasm. Used to study pontocerebellar hypoplasia. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 7. Orthologous to human TOE1 (target of EGR1, exonuclease).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Diotel et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Lardelli et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pontocerebellar hypoplasia type 7 | Alliance | Pontocerebellar hypoplasia, type 7 | 614969 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| pontocerebellar hypoplasia | AB/TU + MO2-toe1 | standard conditions | Lardelli et al., 2017 |
| pontocerebellar hypoplasia | AB/TU + MO1-toe1 | standard conditions | Lardelli et al., 2017 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ribonuclease CAF1 | Ribonuclease H-like superfamily | Ribonuclease H superfamily | Zinc finger, CCCH-type | Zinc finger, CCCH-type superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:B8A5U4
|
483 |
Interactions and Pathways
No data available
Plasmids
No data available