Recombinant Human Rhodopsin kinase (GRK1)

1. In conclusion, in the present report, a novel missense mutation in GRK1 gene in homozygous state was reported in an Italian patient affected with Oguchi disease. PMID: 28511019
2. Gene analysis determined a novel GRK1 mutation c.923T>C, which caused Oguchi disease in all siblings. This mutation, was demonstrated by amino acid alignment analysis to be in a phylogenetically conserved region and resulted in an amino acid change from leucine to proline at position 308. Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family. PMID: 27511724
3. AAMP Regulates Endothelial Cell Migration and Angiogenesis Through RhoA/Rho Kinase Signaling. PMID: 26350504
4. In the Ca(2+)/NCS-1.D2R peptide complex, the C-terminal region adopts a 310 helix-turn-310 helix, whereas in the GRK1 peptide complex it forms an a-helix PMID: 25979333
5. The identification of the c.1607_1610delCGGA mutation in a patient with Oguchi disease confirms the pathogenicity of this variant. PMID: 26349155
6. Rho-kinase activity exhibits distinct circadian variation associated with alterations in coronary vasomotor responses and autonomic activity in VSA patients. PMID: 24670923
7. The selective thinning of the inner retinal layers in patients with GRM6 mutations suggests either reduced bipolar or ganglion cell numbers or altered synaptic structure in the inner retina. PMID: 22959359
8. Defects in GRK1 or GRK7 cause patients to suffer from an inability to properly deactivate rhodopsin leading to problems with recovery and dark adaptation. PMID: 22183412
9. There are two genes that cause Oguchi disease: the G protein-coupled receptor kinase 1 gene and the S antigen gene. There is evidence that Oguchi disease and retinitis pigmentosa (RP) can coexist in the same family or even in the same individual PMID: 21922265
10. Phosphorylation of GRK1 and GRK7 by PKA occurs in the dark, when cAMP levels in photoreceptor cells are elevated. PMID: 15946941
11. The disease in the Pakistani family localizes to 13q34 and is caused by a novel deletion including Exon 3 of the GRK1 gene. PMID: 16319817
12. G protein-coupled receptor kinase site serine cluster has a role in beta2-adrenergic receptor internalization, desensitization, and beta-arrestin translocation PMID: 16407241
13. RhoK activation in brain microvascular endothelial cells could be a cause of blood-brain barrier impairment during HIV-1 encephalitis. PMID: 16478881
14. A novel homozygous GRK1 mutation (p.P391H) was found in 2 Japanese siblings with Oguchi disease. PMID: 17070587
15. Conserved bicoid homeodomain factors thus appear to be the key factors governing localization of GRK1 Enhancer/Promoter activity in retina and photoreceptors. PMID: 17524610
16. The authors found two different novel mutations in Japanese patients. The results indicate that a considerable number of GRK1 mutations exist in the Japanese population. PMID: 17765441
17. Genetic mapping supported the diagnosis of typical Oguchi disease in a Pakistani family and also resulted in the identification of a novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1. PMID: 19753316

Show More

Hide All

HGNC: 10013

OMIM: 180381

KEGG: hsa:6011

STRING: 9606.ENSP00000334876

UniGene: Hs.103501