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 localize to integral component of membrane. 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
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Naef et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant distal hereditary motor neuronopathy 12 | Alliance | ?Neuronopathy, distal hereditary motor, autosomal dominant 12 | 614751 |
| autosomal recessive distal hereditary motor neuronopathy 6 | Alliance | Neuronopathy, distal hereditary motor, autosomal recessive 6 | 620011 |
| 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:F8W555
|
199 | |
|
UniProtKB:A0A8M9P9M3
|
308 |
Interactions and Pathways
No data available
Plasmids
No data available