RPGRIP1 Gene Summary [Human]
This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | RPGRIP1 |
| Official Name | RPGR interacting protein 1 [Source:HGNC Symbol;Acc:HGNC:13436] |
| Ensembl ID | ENSG00000092200 |
| Bio databases IDs | |
| Aliases | RPGR interacting protein 1 |
| Synonyms | 0610005A07Rik, 4930401L23Rik, 4930505G06Rik, A930002K18Rik, CORD13, LCA6, nmf247, retinitis pigmentosa GTPase regulator interacting protein 1, RGI1, RGRIP, Rik0610005a07, RPGR interacting protein 1, RPGRIP, RPGRIP1d |
| 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 RPGRIP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TPR/MLP1/MLP2-like protein
- Retinitis pigmentosa G-protein regulator interacting C-terminal
- protein binding
- First C2 domain of RPGR-interacting protein 1
- Protein kinase C conserved region 2 (CalB)
- C2 domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinal dystrophy
- leber congenital amaurosis type 6
- Leber congenital amaurosis type 1
- cone-rod dystrophy 13
- Leber congenital amaurosis
- refractive error
- strabismus
- cone-rod dystrophy
- retinitis pigmentosa
- RPGRIP1L-related disorder
role in cell
- proliferation
- scotopic b-wave response
- scotopic a-wave response
- development
- survival
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- detergent-insoluble membrane fraction
- microtubule cytoskeleton
- ciliary transition zone
- intracellular membrane-bounded organelle
- non-motile cilium
- cilia
- Nucleus
- Plasma Membrane
- microtubules
- axonemes
- cytoplasmic bridges
- cytosol
- connecting cilia
- ciliary rootlet
- neurites
- photoreceptor inner segments
- rod outer segments
- cone outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RPGRIP1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural precursor cell proliferation
- visual perception
- retinal rod cell development
Cellular Component
Where in the cell the gene product is active
- ciliary rootlet
- photoreceptor connecting cilium
- axoneme
Molecular Function
What the gene product does at the molecular level
- protein binding
- thromboxane A2 receptor binding