This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq]
Function:
Phosphorylates rhodopsin thereby initiating its deactivation. This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination.
Subcellular Location:
Membrane.
Tissue Specificity:
Retina and pineal gland.
Post-translational modifications:
Autophosphorylated.
Farnesylation is required for full activity.
DISEASE:
Defects in GRK1 are a cause of congenital stationary night blindness Oguchi type 2 (CSNBO2) [MIM:613411]. It is 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.
Similarity:
Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family.
GPRK subfamily.
Contains 1 AGSLCkinase SLCterminal domain.
Contains 1 protein kinase domain.
Contains 1 RGS domain.
SWISS:
Q15835
Gene ID:
6011
Database links:
Entrez Gene: 6011 Human
Entrez Gene: 4813 Mouse
Omim: 36381 Human
SwissProt: Q15835 Human
SwissProt: Q9WVL4 Mouse
Unigene: 103501 Human
Unigene: 721727 Human
Unigene: 257501 Mouse
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