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FLASH GENE

Symbol

GRK1

contributors: mct/npt - updated : 20-03-2019

HGNC name	G protein-coupled receptor kinase 1
HGNC id	10013

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CSNB8 blindness night congenital, stationary 8, Oguchi disease
Location	13q34      Physical location : 114.321.596 - 114.438.636
Synonym name	rhodopsin kinase
Synonym symbol(s)	RHOK, RK, GPRK1
EC.number	2.7.11.14

DNA

TYPE	functioning gene
STRUCTURE	12.60 kb     4 Exon(s)

regulatory sequence	Promoter
text structure	a short highly active photoreceptor specific enhancer/promoter including an H1 (homeoresponse element) upstream of the gene (Young 2003)
	conserved bicoid homeodomain factors thus appear to be the key factors governing localization of its enhancer/promoter activity in retina and photoreceptors (Young 2007)

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002929 4 - 2100 NP_002920 - 563 - 2016 26350504 variant b - splicing - isoform b - - - 2016 26350504 retaining the last intron

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining       Epithelial sensory visual

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two distinct calmodulin-binding sites, localized to the N and C terminal regulatory regions
	a regulator of G protein signaling domain
	a serine/threonine protein kinase catalytic domain
	a region close to its C-terminus seemed to be the binding site for S-modulin/recoverin

HOMOLOGY

Homologene

FAMILY	protein kinase superfamily
	AGC Ser/Thr protein kinase family
	GPRK subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic
text	present at the membrane of the photoreceptor cell, exported to the cytosol after activation of the visual cascade
	ocular ciliary epithelium expressed in a non visual phosphotransduction pathway

basic FUNCTION	G protein coupled receptor kinase, involved in quenching of light-induced signal transduction in phosphoreceptor (dark state recovery after phosphoactivation, desensitization process
	photoreceptor-specific enzyme that mediates adaptation of photoreceptors to light and protects these cells against light-induced injury (Young 2003)
	visual pigment kinase in rods and is essential for inactivation of light-activated rhodopsin (Torisawa 2008)
	is a visual pigment kinase in rods and is essential for inactivation of light-activated rhodopsin
	phosphorylation of GRK1, is critical for the deactivation of the phototransduction cascade in vertebrate photoreceptors
	key enzyme in the quenching of photolysed rhodopsin activity and desensitisation of the rod photoreceptor neurons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	visual cycle

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

conserved component of the light adaptation and recovery pathways shared among rod and cone photoreceptors of a variety of species (Young 2007)

INTERACTION

DNA

RNA

small molecule

protein	associating with rhodopsin during the dark state
	RCVRN regulates the activity of rhodopsin kinase, GRK1, in a Ca2+-dependent manner
	phototransduction does not play a direct role in the light-dependent dephosphorylation of GRK1
	NCS1 interacts with both the G-protein-coupled receptor (GPCR) DRD2, regulating its internalization and surface expression, and the cognate kinases GRK1 and ADBRK1
	RCVRN is a small Ca(2+)-binding protein that inhibits rhodopsin kinase GRK1
	an active conformation of the GRK1 kinase domain is required for efficient interaction with rhodopsin
	RCVRN is a calcium-dependent regulator of GRK1

cell & other

REGULATION

inhibited by

by binding of the Ca(2+)-bound form of S-modulin/recoverin(RCV1) (Torisawa 2008)

Other

is posttranslationally modified at the C terminus by isoprenylation (farnesylation), endoproteolysis and alpha-carboxymethylation

ASSOCIATED DISORDERS

corresponding disease(s)

CSNB8

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     causes retina degeneration through a transducin-independent mechanism

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS