Property Summary

NCBI Gene PubMed Count 36
PubMed Score 81.47
PubTator Score 58.37

Knowledge Summary

Patent (3,159)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.500 5.5e-03

Gene RIF (15)

PMID Text
26349155 The identification of the c.1607_1610delCGGA mutation in a patient with Oguchi disease confirms the pathogenicity of this variant.
25979333 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
24670923 Rho-kinase activity exhibits distinct circadian variation associated with alterations in coronary vasomotor responses and autonomic activity in VSA patients.
22959359 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.
22183412 Defects in GRK1 or GRK7 cause patients to suffer from an inability to properly deactivate rhodopsin leading to problems with recovery and dark adaptation.
21922265 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
19753316 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.
18266817 A GRK1 region close to its C-terminus also seemed to be the binding site for S-modulin/recoverin.
17765441 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.
17524610 Conserved bicoid homeodomain factors thus appear to be the key factors governing localization of GRK1 Enhancer/Promoter activity in retina and photoreceptors.
17070587 A novel homozygous GRK1 mutation (p.P391H) was found in 2 Japanese siblings with Oguchi disease.
16478881 RhoK activation in brain microvascular endothelial cells could be a cause of blood-brain barrier impairment during HIV-1 encephalitis.
16407241 G protein-coupled receptor kinase site serine cluster has a role in beta2-adrenergic receptor internalization, desensitization, and beta-arrestin translocation
16319817 The disease in the Pakistani family localizes to 13q34 and is caused by a novel deletion including Exon 3 of the GRK1 gene.
15946941 Phosphorylation of GRK1 and GRK7 by PKA occurs in the dark, when cAMP levels in photoreceptor cells are elevated.

AA Sequence

MDFGSLETVVANSAFIAARGSFDGSSSQPSRDKKYLAKLKLPPLSKCESLRDSLSLEFESVCLEQPIGKK      1 - 70
LFQQFLQSAEKHLPALELWKDIEDYDTADNDLQPQKAQTILAQYLDPQAKLFCSFLDEGIVAKFKEGPVE     71 - 140
IQDGLFQPLLQATLAHLGQAPFQEYLGSLYFLRFLQWKWLEAQPMGEDWFLDFRVLGKGGFGEVSACQMK    141 - 210
ATGKLYACKKLNKKRLKKRKGYQGAMVEKKILMKVHSRFIVSLAYAFETKADLCLVMTIMNGGDIRYHIY    211 - 280
NVNEENPGFPEPRALFYTAQIICGLEHLHQRRIVYRDLKPENVLLDNDGNVRISDLGLAVELLDGQSKTK    281 - 350
GYAGTPGFMAPELLQGEEYDFSVDYFALGVTLYEMIAARGPFRARGEKVENKELKHRIISEPVKYPDKFS    351 - 420
QASKDFCEALLEKDPEKRLGFRDETCDKLRAHPLFKDLNWRQLEAGMLMPPFIPDSKTVYAKDIQDVGAF    421 - 490
STVKGVAFDKTDTEFFQEFATGNCPIPWQEEMIETGIFGELNVWRSDGQMPDDMKGISGGSSSSSKSGMC    491 - 560
LVS                                                                       561 - 563
//

Text Mined References (37)

PMID Year Title
26349155 2015 The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.
25979333 2015 Neuronal Calcium Sensor-1 Binds the D2 Dopamine Receptor and G-protein-coupled Receptor Kinase 1 (GRK1) Peptides Using Different Modes of Interactions.
24670923 2014 Circadian variation of Rho-kinase activity in circulating leukocytes of patients with vasospastic angina.
22959359 2012 Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
22183412 2012 A tale of two kinases in rods and cones.
21922265 2011 Oguchi disease masked by retinitis pigmentosa.
19753316 2009 A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
18266817 Amino acid residues in GRK1/GRK7 responsible for interaction with S-modulin/recoverin.
17765441 2007 Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
17524610 2007 Conserved interactions of a compact highly active enhancer/promoter upstream of the rhodopsin kinase (GRK1) gene.
17070587 2007 A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
16478881 2006 Rho-mediated regulation of tight junctions during monocyte migration across the blood-brain barrier in HIV-1 encephalitis (HIVE).
16407241 2006 Role of the G protein-coupled receptor kinase site serine cluster in beta2-adrenergic receptor internalization, desensitization, and beta-arrestin translocation.
16319817 2005 A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.
15946941 2005 Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities.
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12939331 2003 A short, highly active photoreceptor-specific enhancer/promoter region upstream of the human rhodopsin kinase gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11910029 2002 Mass spectrometric analysis of the kinetics of in vivo rhodopsin phosphorylation.
11717351 2001 Species-specific differences in expression of G-protein-coupled receptor kinase (GRK) 7 and GRK1 in mammalian cone photoreceptor cells: implications for cone cell phototransduction.
11498053 2001 Multiple phosphorylation of rhodopsin and the in vivo chemistry underlying rod photoreceptor dark adaptation.
11394879 2001 Molecular evidence that human ocular ciliary epithelium expresses components involved in phototransduction.
10085129 1999 Regulation of G protein-coupled receptor kinases by caveolin.
9753452 1998 Localization of the sites for Ca2+-binding proteins on G protein-coupled receptor kinases.
9501174 1998 Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness.
9478965 1998 Molecular forms of human rhodopsin kinase (GRK1).
9419375 1998 Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man.
9268593 1997 Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa.
9147475 Molecular cloning and localization of rhodopsin kinase in the mammalian pineal.
9099669 1997 Identification of protein kinase C phosphorylation sites on bovine rhodopsin.
9020843 1997 Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8812493 1996 Characterization and chromosomal localization of the gene for human rhodopsin kinase.
8617805 1996 Structural and enzymatic aspects of rhodopsin phosphorylation.
1656454 1991 The receptor kinase family: primary structure of rhodopsin kinase reveals similarities to the beta-adrenergic receptor kinase.
1527025 1992 Identification of the autophosphorylation sites in rhodopsin kinase.