AlphaFold predicted structure
RPGR · Q92834
Mean pLDDT
57.1/ 100
Low
1,020 residues
Confidence breakdown
- Very high(≥ 90)35%
- Confident(70–90)1%
- Low(50–70)3%
- Very low(< 50)61%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
RPGR
Chr Xp11.4retinitis pigmentosa GTPase regulator
- Aliases:
- CORDX1
- MANE:
- ENST00000645032.1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Primary ciliary disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesRespiratory ciliopathies including non-CF bronchiectasis
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesRetinal disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Glaucoma (developmental)
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Monogenic hearing loss
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Ophthalmological ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Rare multisystem ciliopathy disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Disease associations (Open Targets)
retinitis pigmentosa
0.84Cone rod dystrophy
0.75Primary ciliary dyskinesia - retinitis pigmentosa
0.75retinitis pigmentosa 3
0.71RPGR-related retinopathy
0.68primary ciliary dyskinesia
0.67X-linked cone-rod dystrophy 1
0.66Retinal dystrophy
0.63cone-rod dystrophy
0.51X-linked cone-rod dystrophy
0.51
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
X-linked retinitis pigmentosa GTPase regulator
Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:20631154). GEF activity towards RAB8A may facilitate ciliary trafficking by modulating ciliary intracellular localization of RAB8A (PubMed:20631154). GEF activity towards RAB37 maintains autophagic homeostasis and retinal function (By similarity). Involved in photoreceptor integrity (By similarity). May control cilia formation by regulating actin stress filaments and cell contractility. May be involved in microtubule organization and regulation of transport in primary cilia (PubMed:21933838). May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity)
Diseases associated with RPGR
Curated MONDO disease pages that list RPGR among their top associated genes.