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] See more...

Aliases for GRK1 Gene

Aliases for GRK1 Gene

  • G Protein-Coupled Receptor Kinase 1 2 3 4 5
  • RK 2 3 4
  • Rhodopsin Kinase GRK1 3 4
  • Rhodopsin Kinase 2 3
  • EC 2.7.11.14 4 51
  • GPRK1 2 3
  • RHOK 3 4
  • EC 2.7.11 51
  • GRK1 5

External Ids for GRK1 Gene

Previous HGNC Symbols for GRK1 Gene

  • RHOK

Previous GeneCards Identifiers for GRK1 Gene

  • GC13P112270
  • GC13P113369
  • GC13P114321
  • GC13P094760
  • GC13P113667

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 Oguchi Disease. 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 GRK6.

UniProtKB/Swiss-Prot Summary 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 (PubMed:15946941). This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination (By similarity). May play a role in the maintenance of the outer nuclear layer in the retina (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRK1 Gene

Genomics for GRK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GRK1 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
GH13J113646 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 620.8 +1.6 1629 2.4 NR2C1 SP1 ZNF140 SMARCC1 ZBTB10 SMARCA4 CHD2 BCL11A ESRRA E2F4 GRK1 CDC16 PCID2 CHAMP1 DCUN1D2 DCUN1D2-AS GAS6 TMEM255B piR-50470 ATP4B
GH13J113667 Promoter 0.4 EPDnew 600.4 +21.5 21462 0.1 ZBTB48 GRK1 ATP4B lnc-GAS6-4 LOC105377805
GH13J113644 Enhancer 0.2 Ensembl 600.7 -1.5 -1470 0.2 GRK1 piR-56868 TFDP1
GH13J113583 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 14 -60.8 -60770 2.8 ZNF629 KDM1A ZNF692 POLR2A BACH1 LARP7 MTA2 ZNF143 ZIC2 ZSCAN4 5EW4_A-014 TFDP1 CDC16 GRK1 GAS6 TUBGCP3 TMCO3
GH13J113724 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 10.9 +79.9 79930 3 SP1 CTCF PRDM10 MTA2 ZNF143 ZIC2 PATZ1 REST TRIM22 HDAC1 TMEM255B GRK1 DCUN1D2 lnc-GAS6-4 LOC105377805 ATP4B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GRK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRK1

Top Transcription factor binding sites by QIAGEN in the GRK1 gene promoter:
  • aMEF-2
  • AML1a
  • AP-2gamma
  • ATF-2
  • CREB
  • deltaCREB
  • GATA-1
  • MEF-2A
  • Olf-1
  • RORalpha1

Genomic Locations for GRK1 Gene

Genomic Locations for GRK1 Gene
chr13:113,645,771-113,737,736
(GRCh38/hg38)
Size:
91,966 bases
Orientation:
Plus strand
chr13:114,321,470-114,440,708
(GRCh37/hg19)
Size:
119,239 bases
Orientation:
Plus strand

Genomic View for GRK1 Gene

Genes around GRK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRK1 Gene

Proteins for GRK1 Gene

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

    Protein Symbol:
    Q15835-GRK1_HUMAN
    Recommended name:
    Rhodopsin kinase GRK1
    Protein Accession:
    Q15835
    Secondary Accessions:
    • Q53X14

    Protein attributes for GRK1 Gene

    Size:
    563 amino acids
    Molecular mass:
    63526 Da
    Quaternary structure:
    • Interacts (via N-terminus) with RCVRN (via C-terminus); the interaction is Ca(2+)-dependent (By similarity). Interacts (when prenylated) with PDE6D; this promotes release from membranes (By similarity). May form a complex composed of RHO, GRK1 and RCVRN in a Ca(2+)-dependent manner; RCVRN prevents the interaction between GRK1 and RHO (By similarity).

    Three dimensional structures from OCA and Proteopedia for GRK1 Gene

neXtProt entry for GRK1 Gene

Selected DME Specific Peptides for GRK1 Gene

Q15835:
  • DTEFFQEFA
  • KVHSRFIVSLAYAFETK
  • KTKGYAGTPGFMAPELL
  • DGLFQPLL
  • TIMNGGD
  • RDLKPEN
  • LQWKWLE
  • VSLAYAFE
  • RISDLGLA
  • GEEYDFSVDYFALGVTLYEMIAARGPFRARGEKVENKELK

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:

Domains & Families for GRK1 Gene

Gene Families for GRK1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GRK1 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 GRK1 Gene

GenScript: Design optimal peptide antigens:
  • G protein-coupled receptor kinase 1 (B9EIS4_HUMAN)
  • G protein-coupled receptor kinase 1b (O95098_HUMAN)
  • G protein-coupled receptor kinase 1 (Q71VB6_HUMAN)
  • G protein-coupled receptor kinase 1 (RK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15835

UniProtKB/Swiss-Prot:

GRK1_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 GRK1: view

Function for GRK1 Gene

Molecular function for GRK1 Gene

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 (PubMed:15946941). This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination (By similarity). May play a role in the maintenance of the outer nuclear layer in the retina (By similarity).
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=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 EnzymeRegulation:
Inhibited by RCVRN, which prevents the interaction between GRK1 and RHO (By similarity). Inhibition is calcium-dependent (By similarity). Inhibited by phosphorylation of Ser-21.

Enzyme Numbers (IUBMB) for GRK1 Gene

Phenotypes From GWAS Catalog for GRK1 Gene

Gene Ontology (GO) - Molecular Function for GRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity TAS 1656454
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 GRK1: view
genes like me logo Genes that share phenotypes with GRK1: view

Human Phenotype Ontology for GRK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GRK1 Gene

MGI Knock Outs for GRK1:
  • Grk1 Grk1<tm1Citb>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRK1

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. Cell projection, cilium, photoreceptor outer segment. Note=Subcellular location is not affected by light or dark conditions. {ECO:0000250 UniProtKB:Q9WVL4}.

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 GRK1 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0016020 membrane IEA --
GO:0042995 cell projection IEA --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with GRK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GRK1 Gene

Pathways & Interactions for GRK1 Gene

PathCards logo

SuperPathways for GRK1 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 GRK1: view

Pathways by source for GRK1 Gene

6 Qiagen pathways for GRK1 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Chemokine Signaling
  • Colorectal Cancer Metastasis
  • PKA Signaling

SIGNOR curated interactions for GRK1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007165 signal transduction IEA --
GO:0007601 visual perception TAS,IEA --
GO:0008277 regulation of G protein-coupled receptor signaling pathway TAS 1656454
GO:0016056 rhodopsin mediated signaling pathway TAS 1656454
genes like me logo Genes that share ontologies with GRK1: view

Drugs & Compounds for GRK1 Gene

(8) Drugs for GRK1 Gene - From: HMDB and Novoseek

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

(11) Additional Compounds for GRK1 Gene - From: Novoseek and 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 GRK1: view

Transcripts for GRK1 Gene

mRNA/cDNA for GRK1 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 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 GRK1

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

No ASD Table

Relevant External Links for GRK1 Gene

GeneLoc Exon Structure for
GRK1

Expression for GRK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for GRK1 Gene



Protein tissue co-expression partners for GRK1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRK1

SOURCE GeneReport for Unigene cluster for GRK1 Gene:

Hs.103501

mRNA Expression by UniProt/SwissProt for GRK1 Gene:

Q15835-GRK1_HUMAN
Tissue specificity: Retinal-specific. Expressed in rods and cones cells.

Evidence on tissue expression from TISSUES for GRK1 Gene

  • Eye(4.7)
  • Nervous system(4.4)
  • Skin(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GRK1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • blood
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with GRK1: view

Orthologs for GRK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GRK1 30 31
  • 99.04 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GRK1 30 31
  • 85.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Grk1 30
  • 84.72 (n)
Oppossum
(Monodelphis domestica)
Mammalia GRK1 31
  • 84 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Grk1 30 17 31
  • 83.96 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GRK1 30 31
  • 83.75 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GRK1 31
  • 76 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GRK1 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia grk1 30
  • 64.4 (n)
Zebrafish
(Danio rerio)
Actinopterygii grk1a 30 31
  • 69.91 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Gprk1 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea grk-2 31
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13752 30
Species where no ortholog for GRK1 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GRK1: view image

Paralogs for GRK1 Gene

Paralogs for GRK1 Gene

(30) SIMAP similar genes for GRK1 Gene using alignment to 4 proteins:

  • RK_HUMAN
  • B9EIS4_HUMAN
  • O95098_HUMAN
  • Q71VB6_HUMAN
genes like me logo Genes that share paralogs with GRK1: view

Variants for GRK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRK1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
636033 Likely Pathogenic: Congenital stationary night blindness 113,733,073(+) C/T NONSENSE
638310 Uncertain Significance: Oguchi's disease 113,667,478(+) G/A MISSENSE_VARIANT
871657 Uncertain Significance: not provided 113,732,909(+) G/A MISSENSE_VARIANT
rs200053828 Likely Benign: not provided 113,671,563(+) A/G MISSENSE_VARIANT
rs570621429 Pathogenic: Oguchi disease 2. Night blindness, congenital stationary, Oguchi type 2 (CSNBO2) [MIM:613411] 113,731,321(+) C/Ap.Pro391His MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GRK1 Gene

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

Variant ID Type Subtype PubMed ID
dgv256e201 CNV deletion 23290073
esv2748349 CNV deletion 23290073
esv2748350 CNV deletion 23290073
esv2748353 CNV deletion 23290073
esv2748355 CNV deletion 23290073
esv3423874 CNV duplication 20981092
esv3633615 CNV gain 21293372
esv3633616 CNV loss 21293372
esv3633617 CNV gain 21293372
nsv1070622 CNV deletion 25765185

Variation tolerance for GRK1 Gene

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

Additional Variant Information for GRK1 Gene

Human Gene Mutation Database (HGMD)
GRK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRK1

SNP Genotyping and Copy Number Assay Products

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

Disorders for GRK1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for GRK1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
oguchi disease 2
  • night blindness, congenital stationary, oguchi type 2; csnbo2
oguchi disease
  • stationary night blindness, oguchi type
night blindness
  • nyctalopia
congenital stationary night blindness
  • congenital essential nyctalopia
fundus albipunctatus
  • fa
- elite association - COSMIC cancer census association via MalaCards
Search GRK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GRK1_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.
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 SC … Dryja TP (Genomics 1996) 2 3 4 23
  2. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. (PMID: 17070587) Hayashi T … Kitahara K (Ophthalmology 2007) 3 4 23
  3. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 2 3 4
  4. 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) 3 4 23
  5. Molecular cloning and localization of rhodopsin kinase in the mammalian pineal. (PMID: 9147475) Zhao X … Palczewski K (Visual neuroscience 1997) 3 4 23

Products for GRK1 Gene

Sources for GRK1 Gene