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GRK1

Chr 13q34

G protein-coupled receptor kinase 1

Aliases:
GPRK1, RK
MANE:
ENST00000335678.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Oguchi disease-2

    0.66
  • Oguchi disease

    0.53
  • Retinal dystrophy

    0.50
  • congenital stationary night blindness

    0.28
  • autoimmune disorder of central nervous system

    0.22
  • hereditary disease

    0.19
  • epilepsy

    0.16
  • pancreas disorder

    0.14
  • metabolic disease

    0.14
  • alopecia areata

    0.14

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Rhodopsin kinase GRK1

Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade (PubMed:15946941). This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination (By similarity). May play a role in the maintenance of the outer nuclear layer in the retina (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.