GRK1

Function

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).

Involvement in disease

Night blindness, congenital stationary, Oguchi type 2

CSNBO2

A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is associated with fundus discoloration and abnormally slow dark adaptation.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Autophosphorylated, Ser-21 is a minor site of autophosphorylation compared to Ser-491 and Thr-492 (By similarity). Phosphorylation at Ser-21 is regulated by light and activated by cAMP.

Farnesylation is required for full activity.

Sequence Similarities

Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily.

Tissue Specificity

Retinal-specific. Expressed in rods and cones cells.

Cellular localization

• Membrane
• Lipid-anchor
• Cell projection
• Cilium
• Photoreceptor outer segment
• Subcellular location is not affected by light or dark conditions.

Alternative names

RHOK, GRK1, Rhodopsin kinase GRK1, RK, G protein-coupled receptor kinase 1

Database links

swissprot:Q15835 omim:180381 swissprot:Q8WTQ7 entrezGene:6011 entrezGene:131890