Reep1 Gene Summary [Mouse]
Predicted to enable microtubule binding activity and olfactory receptor binding activity. Involved in regulation of intracellular transport. Located in endoplasmic reticulum membrane and endoplasmic reticulum tubular network. Is expressed in diaphragm; nervous system; neural retina; and skeletal musculature. Used to study hereditary spastic paraplegia 31. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 12; autosomal recessive distal hereditary motor neuronopathy 6; and hereditary spastic paraplegia 31. Orthologous to human REEP1 (receptor accessory protein 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Reep1 |
| Official Name | receptor accessory protein 1 [Source:MGI Symbol;Acc:MGI:1098827] |
| Ensembl ID | ENSMUSG00000052852 |
| Bio databases IDs | |
| Aliases | receptor accessory protein 1 |
| Synonyms | C2orf23, D6ERTD253E, DSMA6, FLJ13110, HMN5B, HMND12, HMNR6, receptor accessory protein 1, RGD1305230, SPG31, Yip2a |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Reep1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- microtubule binding
- TB2/DP1, HVA22 family
- G-protein-coupled receptor binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- gait disturbance
- hereditary spastic paraplegia autosomal dominant 31
- hereditary spastic paraplegia
- kyphosis
- hereditary disorder
- autosomal recessive distal hereditary motor neuronopathy type 6
- distal hereditary motor neuronopathy type VB
- spastic paraplegia
- Parkinson disease
regulates
- Or5d18
- Or13p10
- RTP1S:RTP2:uOR
- Or5ak22
- OR6A2
- Or52e15
role in cell
- abnormal morphology
- organization
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum tubules
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Reep1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- endoplasmic reticulum tubular network organization
- protein insertion into membrane
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- mitochondrial membrane
- cytoplasm
- membrane
- endoplasmic reticulum tubular network
- endoplasmic reticulum
- cytoplasmic microtubule
Molecular Function
What the gene product does at the molecular level
- protein binding
- olfactory receptor binding
- microtubule binding