REEP6 Gene Summary [Human]
The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]
Details
| Type | Retained Intron |
| Official Symbol | REEP6 |
| Official Name | receptor accessory protein 6 [Source:HGNC Symbol;Acc:HGNC:30078] |
| Ensembl ID | ENSG00000115255 |
| Bio databases IDs | |
| Aliases | receptor accessory protein 6, polyposis locus protein 1-like 1, deleted in polyposis 1-like 1 |
| Synonyms | 0610011M24Rik, C19orf32, DP1L1, receptor accessory protein 6, REEP6.1, REEP6.2, RP77, TB1, TB2L1, Tb2 Like1, Yip2f |
| 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 REEP6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TB2/DP1, HVA22 family
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- apical compartment
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- rod spherules
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human REEP6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- detection of light stimulus involved in visual perception
- regulation of intracellular transport
- endoplasmic reticulum organization
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- endoplasmic reticulum
- photoreceptor inner segment
- clathrin coated vesicle membrane
Molecular Function
What the gene product does at the molecular level
- protein binding