GRK1 G protein-coupled receptor kinase 1 [Homo sapiens] - Gene

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Summary

Official Symbol: GRK1provided by HGNC
Official Full Name: G protein-coupled receptor kinase 1provided by HGNC
Primary source: HGNC:10013
See related: Ensembl:ENSG00000185974; HPRD:01585; MIM:180381
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 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]
Annotation information: Annotation category: suggests misassembly; Annotation category: partial on reference assembly

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Genomic context

Location :: 13q34

Sequence :: Chromosome: 13; NC_000013.10 (114321594..114325974); Chromosome: 13; NC_000013.10 (114426046..114438637)

See GRK1 in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Defects in GRK1 or GRK7 cause patients to suffer from an inability to properly deactivate rhodopsin leading to problems with recovery and dark adaptation.
Title: A tale of two kinases in rods and cones.
There are two genes that cause Oguchi disease: the G protein-coupled receptor kinase 1 gene and the S antigen gene. There is evidence that Oguchi disease and retinitis pigmentosa (RP) can coexist in the same family or even in the same individual
Title: Oguchi disease masked by retinitis pigmentosa.
Genetic mapping supported the diagnosis of typical Oguchi disease in a Pakistani family and also resulted in the identification of a novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1.
Title: A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
A GRK1 region close to its C-terminus also seemed to be the binding site for S-modulin/recoverin.
Title: Amino acid residues in GRK1/GRK7 responsible for interaction with S-modulin/recoverin.
Conserved bicoid homeodomain factors thus appear to be the key factors governing localization of GRK1 Enhancer/Promoter activity in retina and photoreceptors.
Title: Conserved interactions of a compact highly active enhancer/promoter upstream of the rhodopsin kinase (GRK1) gene.
The authors found two different novel mutations in Japanese patients. The results indicate that a considerable number of GRK1 mutations exist in the Japanese population.
Title: Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
The disease in the Pakistani family localizes to 13q34 and is caused by a novel deletion including Exon 3 of the GRK1 gene.
Title: A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.
Phosphorylation of GRK1 and GRK7 by PKA occurs in the dark, when cAMP levels in photoreceptor cells are elevated.
Title: Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities.
RhoK activation in brain microvascular endothelial cells could be a cause of blood-brain barrier impairment during HIV-1 encephalitis.
Title: Rho-mediated regulation of tight junctions during monocyte migration across the blood-brain barrier in HIV-1 encephalitis (HIVE).
G protein-coupled receptor kinase site serine cluster has a role in beta2-adrenergic receptor internalization, desensitization, and beta-arrestin translocation
Title: Role of the G protein-coupled receptor kinase site serine cluster in beta2-adrenergic receptor internalization, desensitization, and beta-arrestin translocation.

Submit: New GeneRIF Correction See all (11)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q15835	Calmodulin 1	CALM1	HPRD	PubMed
Q15835	Q03135	CAV1	HPRD	PubMed
Q15835	Q15835	GRK1	HPRD	PubMed
Q15835	O43924	PDE6D	HPRD	PubMed
Q15835	P35243	RCVRN	HPRD	PubMed
Q15835	P08100	RHO	HPRD	PubMed
BioGRID:111943	BioGRID:107305	CAV1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111943	BioGRID:111890	RCVRN	BioGRID	PubMed	Reconstituted Complex
BioGRID:111943	BioGRID:111942	RHO	BioGRID	PubMed	Biochemical Activity
BioGRID:111943	BioGRID:112506	SNCA	BioGRID	PubMed	Biochemical Activity
BioGRID:111943	BioGRID:112504	SNCB	BioGRID	PubMed	Biochemical Activity
BioGRID:111943	BioGRID:112507	SNCG	BioGRID	PubMed	Biochemical Activity

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
G-protein coupled receptor kinase activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein kinase activity	TAS Traceable Author Statement more info	PubMed
rhodopsin kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
protein autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
protein phosphorylation	TAS Traceable Author Statement more info	PubMed
regulation of G-protein coupled receptor protein signaling pathway	TAS Traceable Author Statement more info	PubMed
regulation of rhodopsin mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
response to drug	IEA Inferred from Electronic Annotation more info
response to light stimulus	IEA Inferred from Electronic Annotation more info
response to stimulus	IEA Inferred from Electronic Annotation more info
rhodopsin mediated phototransduction	TAS Traceable Author Statement more info	PubMed
rhodopsin mediated signaling pathway	TAS Traceable Author Statement more info	PubMed
signal transduction	IEA Inferred from Electronic Annotation more info
termination of G-protein coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: rhodopsin kinase

Names: rhodopsin kinase

NP_002920.1

EC 2.7.11.14

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002929.2 → NP_002920.1 rhodopsin kinase

Status: REVIEWED

Source sequence(s)

BM702747, BX647503, U63973

UniProtKB/Swiss-Prot

Q15835

Related

ENSP00000334876, ENST00000335678

Conserved Domains (3) summary

cd05608
Location:196 – 475
Blast Score: 1469

STKc_GRK1; Catalytic domain of the Protein Serine/Threonine Kinase, G protein-coupled Receptor Kinase 1

cd08748
Location:47 – 179
Blast Score: 495

RGS_GRK1; Regulator of G protein signaling domain (RGS) found in G protein-coupled receptor kinase 1 (GRK1)

smart00220
Location:194 – 455
Blast Score: 662

S_TKc; Serine/Threonine protein kinases, catalytic domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

114321594..114325974

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

94760843..94763378

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC187648.1 (28132..40722)	None
genomic	AF019764.1	AAC97160.1
genomic	AF019765.1	AAC97161.1
genomic	AY327580.1	AAQ94192.1
genomic	BX537316.2 (20100..24480)	None
genomic	CH471085.1	EAX09222.1
genomic	L77502.1	AAT00534.2
mRNA	AK289912.1	BAF82601.1
mRNA	BC140945.1	AAI40946.1
mRNA	BM702747.1	None
mRNA	BX647503.1	None
mRNA	L77503.1	AAG50439.1
mRNA	U63973.1	AAB05929.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O95098	GenPept	UniProtKB/TrEMBL:O95098
Q15835.1	GenPept	UniProtKB/Swiss-Prot:Q15835
Q6VTF2	GenPept	UniProtKB/TrEMBL:Q6VTF2
Q71VB6	GenPept	UniProtKB/TrEMBL:Q71VB6