AlphaFold predicted structure
RPGRIP1 · Q96KN7
Mean pLDDT
67.0/ 100
Low
1,286 residues
Confidence breakdown
- Very high(≥ 90)28%
- Confident(70–90)29%
- Low(50–70)7%
- Very low(< 50)35%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
RPGRIP1
Chr 14q11.2RPGR interacting protein 1
- Aliases:
- RGI1, LCA6, CORD13
- MANE:
- ENST00000400017.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
+3 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
Leber congenital amaurosis
0.79cone-rod dystrophy 13
0.75Leber congenital amaurosis 6
0.74Cone rod dystrophy
0.71Retinal dystrophy
0.65retinitis pigmentosa
0.61cone-rod dystrophy
0.56retinal disorder
0.52Leber congenital amaurosis 1
0.49cone dystrophy
0.43
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells
Diseases associated with RPGRIP1
Curated MONDO disease pages that list RPGRIP1 among their top associated genes.