GRK1
Chr 13G protein-coupled receptor kinase 1
Also known as: GPRK1, RHOK, RK
The protein is a retina-specific kinase that phosphorylates rhodopsin to terminate phototransduction signaling, which is essential for scotopic vision and rapid adaptation to changes in illumination. Mutations cause Oguchi disease-2, a form of congenital stationary night blindness with autosomal recessive inheritance. The gene shows low constraint against loss-of-function variants, consistent with its recessive disease pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GRK1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study Comparing Two Doses of AGTC-501 in Male Participants With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (DAWN)
ENROLLING BY INVITATIONA Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations (SKYLINE)
ACTIVE NOT RECRUITINGA Clinical Trial Evaluating the Safety and Efficacy of a Single Subretinal Injection of AGTC-501 in Participants With XLRP
ACTIVE NOT RECRUITINGSafety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools