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

Summary

Official Symbol: GRK1provided by HGNC
Official Full Name: G protein-coupled receptor kinase 1provided by HGNC
Primary source: HGNC:HGNC:10013
See related: Ensembl:ENSG00000185974 MIM:180381; AllianceGenome:HGNC:10013
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: Note: This gene aligns across a gap in the GRCh38 reference genome assembly, and therefore, the 5' end of this gene was annotated on NT_027140.7 and the 3' end was annotated on NT_024498.13 in NCBI s Homo sapiens Annotation Release 106. [17 Jun 2014]; Annotation category: suggests misassembly
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 13q34

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (113648199..113737736)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (112903498..112947029)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (114321534..114440709)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

New variants and in silico analyses in GRK1 associated Oguchi disease.
Title: New variants and in silico analyses in GRK1 associated Oguchi disease.
Disulfide Dimerization of Neuronal Calcium Sensor-1: Implications for Zinc and Redox Signaling.
Title: Disulfide Dimerization of Neuronal Calcium Sensor-1: Implications for Zinc and Redox Signaling.
Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene.
Title: Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene.
Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.
Title: Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.
In conclusion, in the present report, a novel missense mutation in GRK1 gene in homozygous state was reported in an Italian patient affected with Oguchi disease.
Title: A novel GRK1 mutation in an Italian patient with Oguchi disease.
Gene analysis determined a novel GRK1 mutation c.923T>C, which caused Oguchi disease in all siblings. This mutation, was demonstrated by amino acid alignment analysis to be in a phylogenetically conserved region and resulted in an amino acid change from leucine to proline at position 308. Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family.
Title: A novel missense mutation of the GRK1 gene in Oguchi disease.
AAMP Regulates Endothelial Cell Migration and Angiogenesis Through RhoA/Rho Kinase Signaling.
Title: AAMP Regulates Endothelial Cell Migration and Angiogenesis Through RhoA/Rho Kinase Signaling.
In the Ca(2+)/NCS-1.D2R peptide complex, the C-terminal region adopts a 310 helix-turn-310 helix, whereas in the GRK1 peptide complex it forms an a-helix
Title: Neuronal Calcium Sensor-1 Binds the D2 Dopamine Receptor and G-protein-coupled Receptor Kinase 1 (GRK1) Peptides Using Different Modes of Interactions.
The identification of the c.1607_1610delCGGA mutation in a patient with Oguchi disease confirms the pathogenicity of this variant.
Title: The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.
Rho-kinase activity exhibits distinct circadian variation associated with alterations in coronary vasomotor responses and autonomic activity in VSA patients.
Title: Circadian variation of Rho-kinase activity in circulating leukocytes of patients with vasospastic angina.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oguchi disease-2 MedGen: C3150678 OMIM: 613411 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein kinase activity	TAS Traceable Author Statement more info	PubMed
enables rhodopsin kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables rhodopsin kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables rhodopsin kinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in G protein-coupled opsin signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in protein autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in regulation of opsin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of opsin-mediated signaling pathway	TAS Traceable Author Statement more info
involved_in regulation of signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor disc membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: rhodopsin kinase GRK1

NP_002920.1

EC 2.7.11.14

XP_047286449.1

EC 2.7.11.14

XP_054230761.1

EC 2.7.11.14

NCBI Reference Sequences (RefSeq)

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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_002929.3 → NP_002920.1 rhodopsin kinase GRK1

See identical proteins and their annotated locations for NP_002920.1

Status: REVIEWED

Source sequence(s)

AC187648, BX537316

Consensus CDS

CCDS81785.1

UniProtKB/Swiss-Prot

Q15835, Q53X14

UniProtKB/TrEMBL

B9EIS4

Related

ENSP00000334876.5, ENST00000335678.7

Conserved Domains (2) summary

cd05608
Location:188 → 475

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

cl02565
Location:42 → 179

RGS; Regulator of G protein signaling (RGS) domain superfamily