GRK1: G Protein-Coupled Receptor Kinase 1
Key regulator of rhodopsin phosphorylation in phototransduction
Gene Information Card
| Symbol | GRK1 |
|---|---|
| Full Name | G protein-coupled receptor kinase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q34 |
| NCBI Gene ID | 6011 ncbi.nlm.nih.gov/gene/6011 |
| Ensembl ID | ENSG00000185988 |
| UniProt ID | Q15835 |
| OMIM ID | 180381 |
| HGNC ID | 4613 |
| Aliases | RK, GPRK1, rhodopsin kinase |
Description
GRK1 encodes G protein-coupled receptor kinase 1, a member of the G protein-coupled receptor kinase family. This kinase specifically phosphorylates light-activated rhodopsin in rod photoreceptor cells, initiating its deactivation and thereby regulating phototransduction. Mutations in GRK1 cause Oguchi disease, a form of congenital stationary night blindness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oguchi disease (congenital stationary night blindness) | Loss-of-function mutations in GRK1 impair rhodopsin phosphorylation, leading to prolonged phototransduction and delayed dark adaptation. | OMIM #258100; ClinVar |
| Retinitis pigmentosa (rare association) | Some GRK1 variants may contribute to rod-cone dystrophy, though evidence is limited. | ClinVar; NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | -- | High |
| Testis | -- | Low |
| Brain | -- | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | -- | Not expressed |
| HEK293 | -- | Not expressed |
| Y79 (retinoblastoma) | -- | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.827T>C (p.Leu276Pro) | Missense | Rare | Loss of kinase activity; associated with Oguchi disease |
| c.1195C>T (p.Arg399*) | Nonsense | Rare | Premature truncation; loss of function |
| c.491_492del (p.Leu164Argfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most GRK1 mutations are loss-of-function, leading to impaired rhodopsin phosphorylation and Oguchi disease.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; Oguchi disease is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor kinase activity | • rhodopsin kinase activity |
| • ATP binding | • phototransduction |
| • visual perception | • protein phosphorylation |
| • receptor internalization |
Pathways
• Phototransduction cascade
• G protein-coupled receptor signaling pathway
Protein Summary
GRK1 is a 563-amino acid serine/threonine kinase that specifically phosphorylates light-activated rhodopsin in rod photoreceptors. It contains an N-terminal RGS domain, a central kinase domain, and a C-terminal prenylation site for membrane anchoring. Phosphorylation of rhodopsin by GRK1 facilitates arrestin binding, quenching phototransduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GRK1 Knockout HEK293 Cell Line | EDJ-KQ5661 | Human | 6011 | Details Get a Quote |
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