Rpgr Gene Summary [Mouse]
Predicted to enable ubiquitin protein ligase activity. Involved in intraciliary transport. Acts upstream of or within cellular response to light stimulus; eye morphogenesis; and visual perception. Located in several cellular components, including ciliary basal body; photoreceptor distal connecting cilium; and sperm flagellum. Is expressed in several structures, including genitourinary system; liver; nervous system; sensory organ; and spleen. Used to study X-linked cone-rod dystrophy 1 and retinitis pigmentosa 3. Human ortholog(s) of this gene implicated in X-linked atrophic macular degeneration; X-linked cone-rod dystrophy 1; X-linked retinitis pigmentosa and sinorespiratory infections; retinitis pigmentosa; and retinitis pigmentosa 3. Orthologous to human RPGR (retinitis pigmentosa GTPase regulator). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Rpgr |
| Official Name | retinitis pigmentosa GTPase regulator [Source:MGI Symbol;Acc:MGI:1344037] |
| Ensembl ID | ENSMUSG00000031174 |
| Bio databases IDs | |
| Aliases | retinitis pigmentosa GTPase regulator |
| Synonyms | COD1, CORDX1, CRD, mRpgr, orf15, PCDX, Rd9, retinitis pigmentosa GTPase regulator, RP15, RP3, Rp3h, XLRP3 |
| 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 Rpgr often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Regulator of chromosome condensation (RCC1) repeat
- chromosome condensation 1-like domain
- guanyl-nucleotide exchange factor
- 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
- primary ciliary dyskinesia
- retinitis pigmentosa type 3
- retinitis pigmentosa
- retinal dystrophy
- X-linked cone-rod dystrophy type 1
- X-linked atrophic macular degeneration
- X-linked retinitis pigmentosa
- X-linked cone rod dystrophy
- X-linked retinitis pigmentosa and sinorespiratory infections with deafness
- X-linked retinitis pigmentosa and sinorespiratory infections
role in cell
- quantity
- number
- development
- assembly
- response by
- electrophysiology
- proteolysis in
- abnormal morphology
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
- detergent-insoluble membrane fraction
- cilia
- basal bodies
- centrosome
- Golgi Apparatus
- flagella
- axonemes
- cytosol
- connecting cilia
- sperm tail
- photoreceptor outer segments
- photoreceptor inner segments
- cellular protrusions
- rod outer segments
- cone outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Rpgr gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- intraflagellar transport
- cilium morphogenesis
- intracellular protein transport
- visual perception
- ubiquitin-dependent protein catabolic process
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- centrosome
- cytoplasm
- cilium basal body
- Golgi apparatus
- sperm flagellum
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- guanyl-nucleotide exchange factor activity