GRK1 - G protein-coupled receptor kinase 1 Gene
Also Known as RK; RHOK; GPRK1
Species: Homo sapiens
About GRK1
This gene has 3 transcripts (splice variants), 1 gene allele, 228 orthologues, 7 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.
Summary
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, Jul 2008]
GRK1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_002929.3 | NP_002920.1 | rhodopsin kinase GRK1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables rhodopsin kinase activity |
IDA
IDA: Inferred from direct assay
|
15946941 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in protein autophosphorylation |
IMP
IMP: Inferred from mutant phenotype
|
15946941 | GOA |
| involved in regulation of opsin-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
15946941 | GOA |
GRK1 Protein Structure
RGS: Regulator of G protein signaling domain (58 - 174)
Pkinase: Protein kinase domain (194 - 443)
- 0
- 100
- 200
- 300
- 400
- 500
- 563 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
rhodopsin kinase GRK1 |
|
GRK1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P811266 | GRK1 Antibody | WB, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Oguchi Disease 2 |
|
|
| Oguchi Disease |
|
|
| Congenital Stationary Night Blindness |
|
|
| Night Blindness |
|
|
| Enhanced S-Cone Syndrome |
|
|
| Oguchi Disease 1 |
|
|
| Prothrombin Thrombophilia |
|
|
| Retinoschisis 1, X-Linked, Juvenile |
|
|
| Leber Congenital Amaurosis 1 |
|
|
| Prolonged Electroretinal Response Suppression |
|
|
| Abnormal Threshold Of Rods |
|
|
| Myasthenic Syndrome, Congenital, 3a, Slow-Channel |
|
|
| Retinitis Pigmentosa |
|
|
| Retinal Degeneration |
|
|
| Retinitis Pigmentosa 45 |
|
|
| Leber Congenital Amaurosis 12 |
|
|
| Retinitis Pigmentosa 2 |
|
|
| Fundus Albipunctatus |
|
|
| Leber Congenital Amaurosis 10 |
|
|
| Retinitis Pigmentosa 3 |
|
|
| Achromatopsia |
|
|
| Color Blindness |
|
|
| Eye Degenerative Disease |
|
|
| Myopia |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Stargardt Disease |
|
|
| Cone Dystrophy |
|
|
| Vitelliform Macular Dystrophy |
|
|
| Leber Plus Disease |
|
|
| Usher Syndrome Type 2 |
|
|
| Usher Syndrome |
|
|
| Fundus Dystrophy |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Eye Disease |
|
|
| Joubert Syndrome 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | GRK1 | VGNC | VGNC:62717 |
| Macaca mulatta | GRK1 | VGNC | VGNC:73160 |
| Rattus norvegicus | GRK1 | RGD | RGD:619712 |
| Canis familiaris | GRK1 | VGNC | VGNC:41501 |
| Mus musculus | GRK1 | MGD | MGI:1345146 |
| Bos taurus | GRK1 | VGNC | VGNC:29654 |
| Others | GRK1 | NCBI |