This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008] See more...

Aliases for GRK7 Gene

Aliases for GRK7 Gene

  • G Protein-Coupled Receptor Kinase 7 2 3 4 5
  • G Protein-Coupled Receptor Kinase GRK7 3 4
  • Rhodopsin Kinase GRK7 3 4
  • GPRK7 3 4
  • Rhodopsin Kinase 3
  • EC 2.7.11.16 51
  • EC 2.7.11.14 4
  • EC 2.7.11 51
  • GRK7 5

External Ids for GRK7 Gene

Previous HGNC Symbols for GRK7 Gene

  • GPRK7

Previous GeneCards Identifiers for GRK7 Gene

  • GC03P142817
  • GC03P142979
  • GC03P141496
  • GC03P138870

Summaries for GRK7 Gene

Entrez Gene Summary for GRK7 Gene

  • This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008]

GeneCards Summary for GRK7 Gene

GRK7 (G Protein-Coupled Receptor Kinase 7) is a Protein Coding gene. Diseases associated with GRK7 include Enhanced S-Cone Syndrome and Oguchi Disease 1. Among its related pathways are Signaling by GPCR and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is GRK1.

UniProtKB/Swiss-Prot Summary for GRK7 Gene

  • Retina-specific kinase involved in the shutoff of the photoresponse and adaptation to changing light conditions via cone opsin phosphorylation, including rhodopsin (RHO).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRK7 Gene

Genomics for GRK7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GRK7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J141763 Enhancer 0.6 FANTOM5 Ensembl 613.1 +1.5 1543 2.7 PKNOX1 SPI1 GRK7 ATP1B3 RNU6-509P RF00017-4135 lnc-RNF7-1 ENSG00000285558
GH03J141778 Promoter 0.4 EPDnew 600.4 +15.1 15062 0.1 ZBTB33 GRK7 piR-30847 RF00017-4135 ENSG00000285558 ATP1B3
GH03J141736 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 30.6 -23.2 -23182 6 CEBPG SP1 CREB1 GATAD2A CTCF HNRNPL ATF7 PRDM10 ZNF629 POLR2A RNF7 ENSG00000285558 GRK7 RASA2 ATP1B3 ATP1B3-AS1 RNU6-509P ATR lnc-GRK7-1
GH03J141230 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 -531.2 -531244 2.6 HNRNPL TEAD4 CTCF POLR2A BACH1 TARDBP LARP7 ZNF143 ZIC2 RBFOX2 PXYLP1 lnc-SPSB4-3 lnc-TFDP2-14 RASA2 GRK7 RPL31P21 lnc-ZBTB38-3 ZBTB38
GH03J141848 Enhancer 1.3 FANTOM5 Ensembl ENCODE 12.8 +88.5 88477 7.6 LEF1 IKZF1 DDX20 MTA1 NR2C1 ZNF24 ZNF740 BRD9 DPF2 HDAC1 ENSG00000286822 LOC105374134 ATP1B3 RNF7 GRK7 XRN1 RNU6-509P ENSG00000244327 GK5 TRPC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRK7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRK7

Top Transcription factor binding sites by QIAGEN in the GRK7 gene promoter:
  • aMEF-2
  • ER-alpha
  • MEF-2
  • MEF-2A
  • POU3F2

Genomic Locations for GRK7 Gene

Genomic Locations for GRK7 Gene
chr3:141,763,124-141,818,490
(GRCh38/hg38)
Size:
55,367 bases
Orientation:
Plus strand
chr3:141,496,990-141,537,332
(GRCh37/hg19)
Size:
40,343 bases
Orientation:
Plus strand

Genomic View for GRK7 Gene

Genes around GRK7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRK7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRK7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRK7 Gene

Proteins for GRK7 Gene

  • Protein details for GRK7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WTQ7-GRK7_HUMAN
    Recommended name:
    Rhodopsin kinase GRK7
    Protein Accession:
    Q8WTQ7

    Protein attributes for GRK7 Gene

    Size:
    553 amino acids
    Molecular mass:
    62212 Da
    Quaternary structure:
    • Interacts (when prenylated) with PDE6D; this promotes release from membranes.
    Miscellaneous:
    • Although the protein is present in a diversity of vertebrates ranging from bony fish to mammals, the mouse and rat orthologous proteins do not exist.

neXtProt entry for GRK7 Gene

Selected DME Specific Peptides for GRK7 Gene

Q8WTQ7:
  • YMAPEIL
  • MNGGDLK
  • PPFVPDP
  • VSLAYAFE
  • LDNLIANTAYLQARK

Post-translational modifications for GRK7 Gene

  • Autophosphorylated in vitro at Ser-490. Phosphorylation at Ser-36 is regulated by light and activated by cAMP.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GRK7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GRK7 Gene

Gene Families for GRK7 Gene

Protein Domains for GRK7 Gene

InterPro:
Blocks:
  • GPCR kinase signature
  • Regulator of G-protein signalling (RGS) protein signature
  • Protein kinase C-terminal domain
ProtoNet:

Suggested Antigen Peptide Sequences for GRK7 Gene

GenScript: Design optimal peptide antigens:
  • G protein-coupled receptor kinase GRK7 (GRK7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WTQ7

UniProtKB/Swiss-Prot:

GRK7_HUMAN :
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily.
genes like me logo Genes that share domains with GRK7: view

Function for GRK7 Gene

Molecular function for GRK7 Gene

UniProtKB/Swiss-Prot Function:
Retina-specific kinase involved in the shutoff of the photoresponse and adaptation to changing light conditions via cone opsin phosphorylation, including rhodopsin (RHO).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[rhodopsin]-L-threonine + ATP = [rhodopsin]-O-phospho-L-threonine + ADP + H(+); Xref=Rhea:RHEA:56552, Rhea:RHEA-COMP:14596, Rhea:RHEA-COMP:14597, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.14; Evidence={ECO:0000269|PubMed:15946941};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[rhodopsin]-L-serine + ATP = [rhodopsin]-O-phospho-L-serine + ADP + H(+); Xref=Rhea:RHEA:23356, Rhea:RHEA-COMP:14594, Rhea:RHEA-COMP:14595, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.14; Evidence={ECO:0000269|PubMed:15946941};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.9 uM for rhodopsin {ECO:0000269|PubMed:15946941}; KM=21.4 uM for ATP {ECO:0000269|PubMed:15946941}; Vmax=915 nmol/min/mg enzyme {ECO:0000269|PubMed:15946941};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphorylation of Ser-36.

Enzyme Numbers (IUBMB) for GRK7 Gene

Phenotypes From GWAS Catalog for GRK7 Gene

Gene Ontology (GO) - Molecular Function for GRK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004703 G protein-coupled receptor kinase activity IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with GRK7: view
genes like me logo Genes that share phenotypes with GRK7: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRK7

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GRK7 Gene

Localization for GRK7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRK7 Gene

Membrane. Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRK7 gene
Compartment Confidence
plasma membrane 4
cytosol 3
cytoskeleton 2
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GRK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with GRK7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRK7 Gene

Pathways & Interactions for GRK7 Gene

PathCards logo

SuperPathways for GRK7 Gene

SuperPathway Contained pathways
1 Phototransduction
2 Activation of cAMP-Dependent PKA
.77
.71
.56
3 CCR5 Pathway in Macrophages
.33
4 Endocytosis
5 Colorectal Cancer Metastasis
-
genes like me logo Genes that share pathways with GRK7: view

Pathways by source for GRK7 Gene

5 Qiagen pathways for GRK7 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Chemokine Signaling
  • Colorectal Cancer Metastasis
  • PKA Signaling

SIGNOR curated interactions for GRK7 Gene

Other effect:

Gene Ontology (GO) - Biological Process for GRK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction IEA --
GO:0007601 visual perception IEA --
GO:0016310 phosphorylation IEA --
GO:0022400 regulation of rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with GRK7: view

Drugs & Compounds for GRK7 Gene

(2) Drugs for GRK7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 1594
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for GRK7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with GRK7: view

Transcripts for GRK7 Gene

mRNA/cDNA for GRK7 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRK7

Alternative Splicing Database (ASD) splice patterns (SP) for GRK7 Gene

No ASD Table

Relevant External Links for GRK7 Gene

GeneLoc Exon Structure for
GRK7

Expression for GRK7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GRK7 Gene

mRNA differential expression in normal tissues according to GTEx for GRK7 Gene

This gene is overexpressed in Muscle - Skeletal (x4.0).

Protein differential expression in normal tissues from HIPED for GRK7 Gene

This gene is overexpressed in Breast (46.0), Plasma (13.1), and Retina (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GRK7 Gene



Protein tissue co-expression partners for GRK7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRK7

SOURCE GeneReport for Unigene cluster for GRK7 Gene:

Hs.680654

mRNA Expression by UniProt/SwissProt for GRK7 Gene:

Q8WTQ7-GRK7_HUMAN
Tissue specificity: Retinal cones, outer and inner segments.

Evidence on tissue expression from TISSUES for GRK7 Gene

  • Eye(4.7)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with GRK7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRK7 Gene

Orthologs for GRK7 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRK7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GRK7 30 31
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC485693 30
  • 87.34 (n)
GRK7 31
  • 86 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GRK7 30 31
  • 86.78 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GRK7 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GRK7 31
  • 66 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GRK7 30 31
  • 71.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GRK7 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia grk7 30
  • 66.91 (n)
Zebrafish
(Danio rerio)
Actinopterygii grk7a 30 31
  • 63.59 (n)
OneToMany
grk7b 31
  • 58 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Gprk1 31
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea grk-2 31
  • 24 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for GRK7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GRK7 Gene

ENSEMBL:
Gene Tree for GRK7 (if available)
TreeFam:
Gene Tree for GRK7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GRK7: view image

Paralogs for GRK7 Gene

Paralogs for GRK7 Gene

(10) SIMAP similar genes for GRK7 Gene using alignment to 1 proteins:

  • GRK7_HUMAN
genes like me logo Genes that share paralogs with GRK7: view

Variants for GRK7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRK7 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
VAR_040534 A metastatic melanoma sample p.Ser253Phe
rs33928105 - p.Pro460Thr
rs34429284 - p.Arg81His
rs34769632 - p.Ser115Cys
rs35318124 - p.Ser127Thr

Additional dbSNP identifiers (rs#s) for GRK7 Gene

Structural Variations from Database of Genomic Variants (DGV) for GRK7 Gene

Variant ID Type Subtype PubMed ID
dgv2809e59 CNV duplication 20981092
esv3430042 CNV duplication 20981092
nsv819618 CNV gain 19587683

Variation tolerance for GRK7 Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.99; 74.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GRK7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRK7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRK7 Gene

Disorders for GRK7 Gene

MalaCards: The human disease database

(15) MalaCards diseases for GRK7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
enhanced s-cone syndrome
  • escs
oguchi disease 1
  • night blindness, congenital stationary, oguchi type 1; csnbo1
oguchi disease 2
  • night blindness, congenital stationary, oguchi type 2; csnbo2
myasthenic syndrome, congenital, 3a, slow-channel
  • cms3a
cone-rod dystrophy 15
  • cord15
- elite association - COSMIC cancer census association via MalaCards
Search GRK7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GRK7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GRK7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRK7 Gene

Publications for GRK7 Gene

  1. Species-specific differences in expression of G-protein-coupled receptor kinase (GRK) 7 and GRK1 in mammalian cone photoreceptor cells: implications for cone cell phototransduction. (PMID: 11717351) Weiss ER … Osawa S (The Journal of neuroscience : the official journal of the Society for Neuroscience 2001) 2 3 4 23
  2. Characterization of human GRK7 as a potential cone opsin kinase. (PMID: 11754336) Chen CK … Baehr W (Molecular vision 2001) 2 3 4 23
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Amino acid residues in GRK1/GRK7 responsible for interaction with S-modulin/recoverin. (PMID: 18266817) Torisawa A … Kawamura S (Photochemistry and photobiology 2008) 3 23

Products for GRK7 Gene

  • Boster Bio Antibodies for GRK7
  • Boster Bio ELISA Kits for GRK7

Sources for GRK7 Gene