GRK1

G protein-coupled receptor kinase 1

Ensembl:
ENSG00000281988, ENSG00000288263, ENSG00000185974
UniProt:
Q15835
OMIM:
180381
Synonyms:
GPRK1, RHOK, RK

Cilia effects upon perturbation of GRK1

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.87) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Subcellular localization

flagella

Functional category

  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Phosphorylation of opsins, playing a key role in the shutdown of the rod and cone cascades ( 25422369). Peripherally associated proteins anchored to the membrane by lipid modifications. It i ctivates rhodopsin through phosphorylation ( 25550383).

Model organism evidence

Danio rerio (1 reference)

Mutations in the gene Centrosomal Protein 290 kDa (CEP290) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic diseases like Leber Congenital Amaurosis (LCA)

PMIDs: 30970040

Mus musculus (1 reference)

PURPOSE: Recessive mutations in the human IQCB1/NPHP5 gene are associated with Senior-Løken syndrome (SLS), a ciliopathy presenting with nephronophthisis and Leber congenital amaurosis (LCA).

PMIDs: 30713422