| Entrez Gene ID | 6011 |
|---|---|
| Official Gene Symbol | GRK1 (GeneCards) |
| Full name | G protein-coupled receptor kinase 1 |
| Location | 13q34 |
| Other ids | Vega : OTTHUMG00000185528 MIM : 180381 HGNC : HGNC:10013 Ensembl : ENSG00000185974 |
| Other names | RK, RHOK, GPRK1 |
| 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1123 | 6011 | GRK1 | 13 | 114324091 | 114324091 | Human Skin Fibroblasts | HiSeq 2500 |