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Aliases for GRK1 Gene

Aliases for GRK1 Gene

  • G Protein-Coupled Receptor Kinase 1 2 3 4
  • EC 2.7.11.14 4 63
  • RHOK 3 4
  • RK 3 4
  • Rhodopsin Kinase 2
  • EC 2.7.11 63
  • GPRK1 3

External Ids for GRK1 Gene

Previous HGNC Symbols for GRK1 Gene

  • RHOK

Previous GeneCards Identifiers for GRK1 Gene

  • GC13P112270
  • GC13P113369
  • GC13P114321
  • GC13P094760

Summaries for GRK1 Gene

Entrez Gene Summary for GRK1 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. 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]

GeneCards Summary for GRK1 Gene

GRK1 (G Protein-Coupled Receptor Kinase 1) is a Protein Coding gene. Diseases associated with GRK1 include oguchi disease-2 and hereditary night blindness. Among its related pathways are Signaling by GPCR and Activation of cAMP-Dependent PKA. 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 AKT1.

UniProtKB/Swiss-Prot for GRK1 Gene

  • Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade. This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRK1 Gene

Genomics for GRK1 Gene

Regulatory Elements for GRK1 Gene

Genomic Location for GRK1 Gene

Chromosome:
13
Start:
113,667,155 bp from pter
End:
113,737,735 bp from pter
Size:
70,581 bases
Orientation:
Plus strand

Genomic View for GRK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for GRK1 Gene

Proteins for GRK1 Gene

  • Protein details for GRK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15835-RK_HUMAN
    Recommended name:
    Rhodopsin kinase
    Protein Accession:
    Q15835
    Secondary Accessions:
    • Q53X14

    Protein attributes for GRK1 Gene

    Size:
    563 amino acids
    Molecular mass:
    63526 Da
    Quaternary structure:
    • Interacts (when prenylated) with PDE6D; this promotes release from membranes.

    Three dimensional structures from OCA and Proteopedia for GRK1 Gene

neXtProt entry for GRK1 Gene

Proteomics data for GRK1 Gene at MOPED

Post-translational modifications for GRK1 Gene

  • Autophosphorylated, Ser-21 is a minor site of autophosphorylation compared to Ser-491 and Thr-492 (By similarity). Phosphorylation at Ser-21 is regulated by light and activated by cAMP.
  • Farnesylation is required for full activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GRK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for GRK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15835

UniProtKB/Swiss-Prot:

RK_HUMAN :
  • Contains 1 AGC-kinase C-terminal domain.
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily.
Domain:
  • Contains 1 AGC-kinase C-terminal domain.
  • Contains 1 protein kinase domain.
  • Contains 1 RGS domain.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily.
genes like me logo Genes that share domains with GRK1: view

Function for GRK1 Gene

Molecular function for GRK1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.5 uM for rhodopsin {ECO:0000269 PubMed:15946941}; KM=10.6 uM for ATP {ECO:0000269 PubMed:15946941}; Vmax=1132 nmol/min/mg enzyme {ECO:0000269 PubMed:15946941};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [rhodopsin] = ADP + [rhodopsin] phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphorylation of Ser-21.
UniProtKB/Swiss-Prot Function:
Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade. This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination.

Enzyme Numbers (IUBMB) for GRK1 Gene

Gene Ontology (GO) - Molecular Function for GRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS 1656454
GO:0004674 protein serine/threonine kinase activity --
GO:0004703 G-protein coupled receptor kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0050254 rhodopsin kinase activity IDA 15946941
genes like me logo Genes that share ontologies with GRK1: view
genes like me logo Genes that share phenotypes with GRK1: view

Animal Models for GRK1 Gene

MGI Knock Outs for GRK1:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GRK1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for GRK1 Gene

Localization for GRK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRK1 Gene

Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRK1 Gene COMPARTMENTS Subcellular localization image for GRK1 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for GRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with GRK1: view

Pathways & Interactions for GRK1 Gene

genes like me logo Genes that share pathways with GRK1: view

Gene Ontology (GO) - Biological Process for GRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway TAS 1656454
GO:0008594 photoreceptor cell morphogenesis IEA --
genes like me logo Genes that share ontologies with GRK1: view

No data available for SIGNOR curated interactions for GRK1 Gene

Drugs & Compounds for GRK1 Gene

(9) Drugs for GRK1 Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 1404
Adenosine triphosphate Approved Nutra 0
Vitamin A Approved Nutra 386
AMP-PNP Pharma Antagonist, Gating inhibitor 0
ATP Pharma Activator 0

(11) Additional Compounds for GRK1 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
glutamate
gtp
Partial agonist, Agonist
guanylate
Metarhodopsin II
genes like me logo Genes that share compounds with GRK1: view

Transcripts for GRK1 Gene

mRNA/cDNA for GRK1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GRK1 Gene

G protein-coupled receptor kinase 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GRK1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GRK1 Gene

No ASD Table

Relevant External Links for GRK1 Gene

GeneLoc Exon Structure for
GRK1
ECgene alternative splicing isoforms for
GRK1

Expression for GRK1 Gene

mRNA expression in normal human tissues for GRK1 Gene

mRNA differential expression in normal tissues according to GTEx for GRK1 Gene

This gene is overexpressed in Thyroid (x24.7).

Protein differential expression in normal tissues from HIPED for GRK1 Gene

This gene is overexpressed in Retina (61.1) and Lung (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GRK1 Gene



SOURCE GeneReport for Unigene cluster for GRK1 Gene Hs.103501

mRNA Expression by UniProt/SwissProt for GRK1 Gene

Q15835-RK_HUMAN
Tissue specificity: Retinal-specific. Expressed in rods and cones cells.
genes like me logo Genes that share expression patterns with GRK1: view

Protein tissue co-expression partners for GRK1 Gene

Primer Products

In Situ Assay Products

Orthologs for GRK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GRK1 35
  • 83.75 (n)
  • 83.57 (a)
GRK1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRK1 35
  • 85.49 (n)
  • 87.39 (a)
GRK1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grk1 35
  • 83.96 (n)
  • 85.97 (a)
Grk1 16
Grk1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GRK1 35
  • 99.04 (n)
  • 99.38 (a)
GRK1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grk1 35
  • 84.72 (n)
  • 86.32 (a)
oppossum
(Monodelphis domestica)
Mammalia GRK1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRK1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRK1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grk1 35
  • 64.4 (n)
  • 68.87 (a)
zebrafish
(Danio rerio)
Actinopterygii grk1a 35
  • 69.91 (n)
  • 68.93 (a)
grk1a 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Gprk1 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grk-2 36
  • 25 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13752 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
Species with no ortholog for GRK1:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 GRK1 Gene

ENSEMBL:
Gene Tree for GRK1 (if available)
TreeFam:
Gene Tree for GRK1 (if available)

Paralogs for GRK1 Gene

genes like me logo Genes that share paralogs with GRK1: view

Variants for GRK1 Gene

Sequence variations from dbSNP and Humsavar for GRK1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
VAR_006215 Night blindness, congenital stationary, Oguchi type 2 (CSNBO2)
VAR_008283 -
VAR_008284 -
VAR_008285 -
VAR_008286 -

Structural Variations from Database of Genomic Variants (DGV) for GRK1 Gene

Variant ID Type Subtype PubMed ID
esv2748349 CNV Deletion 23290073
esv2748350 CNV Deletion 23290073
esv2748353 CNV Deletion 23290073
dgv283e201 CNV Deletion 23290073
esv2748355 CNV Deletion 23290073

Variation tolerance for GRK1 Gene

Gene Damage Index Score: 3.36; 53.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRK1 Gene

HapMap Linkage Disequilibrium report
GRK1
Human Gene Mutation Database (HGMD)
GRK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRK1 Gene

Disorders for GRK1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for GRK1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
oguchi disease-2
  • oguchi disease 2
hereditary night blindness
  • congenital night blindness
enhanced s-cone syndrome
  • enhanced s cone dystrophy
night blindness
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association
Search GRK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RK_HUMAN
  • Night blindness, congenital stationary, Oguchi type 2 (CSNBO2) [MIM:613411]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is associated with fundus discoloration and abnormally slow dark adaptation. {ECO:0000269 PubMed:17070587, ECO:0000269 PubMed:9020843}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GRK1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRK1
genes like me logo Genes that share disorders with GRK1: view

No data available for Genatlas for GRK1 Gene

Publications for GRK1 Gene

  1. Characterization and chromosomal localization of the gene for human rhodopsin kinase. (PMID: 8812493) Khani S.C. … Dryja T.P. (Genomics 1996) 2 23 67
  2. Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations. (PMID: 19710705) Sun X. … Li T. (Gene Ther. 2010) 23 67
  3. Effect of g protein-coupled receptor kinase 1 (Grk1) overexpression on rod photoreceptor cell viability. (PMID: 19834036) Whitcomb T. … Khani S.C. (Invest. Ophthalmol. Vis. Sci. 2010) 23 67
  4. Proteomic changes in the photoreceptor outer segment upon intense light exposure. (PMID: 20020778) Hajkova D. … Miyagi M. (J. Proteome Res. 2010) 23 67
  5. A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. (PMID: 19753316) Azam M. … Cremers F.P. (Mol. Vis. 2009) 23 67

Products for GRK1 Gene

Sources for GRK1 Gene

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