Gene
reps1
- ID
- ZDB-GENE-030131-9536
- Name
- RALBP1 associated Eps domain containing 1
- Symbol
- reps1 Nomenclature History
- Previous Names
-
- si:dkey-217m5.1
- wu:fj85c06
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have calcium ion binding activity. Predicted to be involved in receptor-mediated endocytosis. Human ortholog(s) of this gene implicated in neurodegeneration with brain iron accumulation. Orthologous to human REPS1 (RALBP1 associated Eps domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ?Neurodegeneration with brain iron accumulation 7 | 617916 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | EH domain |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PBU8
|
763 | ||||
|
UniProtKB:A0A8M2B7S1
|
791 | ||||
|
UniProtKB:A0A8M2B7T2
|
764 | ||||
|
UniProtKB:Q5VSI7
|
790 |
Interactions and Pathways
No data available
Plasmids
No data available