Gene
reep1
- ID
- ZDB-GENE-110411-267
- Name
- receptor accessory protein 1
- Symbol
- reep1 Nomenclature History
- Previous Names
-
- si:dkey-21a6.4
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have microtubule binding activity. Predicted to be involved in endoplasmic reticulum tubular network organization. Predicted to localize to cytoplasmic microtubule; endoplasmic reticulum membrane; and endoplasmic reticulum tubular network. Human ortholog(s) of this gene implicated in distal hereditary motor neuronopathy type 5B and hereditary spastic paraplegia 31. Orthologous to human REEP1 (receptor accessory protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
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 |
|---|---|---|---|
| distal hereditary motor neuronopathy type 5B | Alliance | ?Neuronopathy, distal hereditary motor, type VB | 614751 |
| hereditary spastic paraplegia 31 | Alliance | Spastic paraplegia 31, autosomal dominant | 610250 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR004345 | TB2/DP1/HVA22-related protein |
Domain Details Per Protein
| Protein | Length | TB2/DP1/HVA22-related protein |
|---|---|---|
|
UniProtKB:E7F615
|
308 | |
|
UniProtKB:F8W555
|
199 |
Interactions and Pathways
No data available
Plasmids
No data available