GRK7

G protein-coupled receptor kinase 7

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000114124
UniProt:
Q8WTQ7
OMIM:
606987
Synonyms:
GPRK7

Ciliogenesis screen results (1 screens)

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:38646933

Subcellular localization

cilia, golgi apparatus

Functional category

  • Signaling (Hedgehog, GPCRs, ion channels)

Function

GRK7 was detected in the apical side of cilia and OS-like structures, colocalizing with PRPH2. EYS plays a role in the trafficking of an OS protein, G protein–coupled receptor kinase 7 (GRK7), which is evolutionarily conserved along with EYS and involved in photoresponse recovery (27, 28). EYS-RD organoids and zebrafish exhibited light-induced photoreceptor cell death related to GRK7 deprivation in the OS. Furthermore, light-induced cell death in RD organoids was especially caused by blue light(PMID: 38646933, 36273582).; Mutations in GRK7 cause Retinal Dystrophy (PMID: 38646933).