REEP1 Gene Summary [Human]
This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | REEP1 |
| Official Name | receptor accessory protein 1 [Source:HGNC Symbol;Acc:HGNC:25786] |
| Ensembl ID | ENSG00000068615 |
| Bio databases IDs | |
| Aliases | receptor accessory protein 1, receptor expression enhancing protein 1 |
| Synonyms | C2orf23, D6ERTD253E, DSMA6, FLJ13110, HMN5B, HMND12, HMNR6, receptor accessory protein 1, RGD1305230, SPG31, Yip2a |
| Species | Human, Homo sapiens |
| 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 human 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
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 human 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