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GRK1 Gene

protein-coding   GIFtS: 62
GCID: GC13P114321

G Protein-Coupled Receptor Kinase 1

(Previous name: rhodopsin kinase)
(Previous symbol: RHOK)
  See GRK1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
G Protein-Coupled Receptor Kinase 11 2 3     EC 2.7.11.143 8
RHOK1 2 3 5     GPRK12
RK2 3 5     EC 2.7.118
Rhodopsin Kinase1 2     

External Ids:    HGNC: 100131   Entrez Gene: 60112   Ensembl: ENSG000001859747   OMIM: 1803815   UniProtKB: Q158353   

Export aliases for GRK1 gene to outside databases

Previous GC identifers: GC13P112270 GC13P113369 GC13P094760


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 1. GO annotations related to this gene include protein kinase activity and rhodopsin kinase activity. An important paralog of this gene is AKT1.

UniProtKB/Swiss-Prot: RK_HUMAN, Q15835
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_024498.13  NT_027140.7  NT_187596.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the GRK1 gene promoter:
         AML1a   ATF-2   Olf-1   AP-2gamma   GATA-1   RORalpha1   MEF-2A   CREB   deltaCREB   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRK1 promoter sequence
   Search Chromatin IP Primers for GRK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GRK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q34   Ensembl cytogenetic band:  13q34   HGNC cytogenetic band: 13q34

GRK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRK1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P114321:  view genomic region     (about GC identifiers)

Start:
114,321,470 bp from pter      End:
114,440,708 bp from pter
Size:
119,239 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RK_HUMAN, Q15835 (See protein sequence)
Recommended Name: Rhodopsin kinase precursor  
Size: 563 amino acids; 63526 Da
Secondary accessions: Q53X14

Explore the universe of human proteins at neXtProt for GRK1: NX_Q15835

Explore proteomics data for GRK1 at MOPED

Post-translational modifications: 

  • 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 cAMP1
  • Farnesylation is required for full activity (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GRK1 (Q15835) (see all 10)
     LQWKWLE  TIMNGGD  RDLKPEN  DGLFQPLL 


    See GRK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002920.1  
    ENSEMBL proteins: 
     ENSP00000334876  
    Reactome Protein details: Q15835

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: G protein-coupled receptor kinase 1
    G protein coupled receptor kinases
    GRK subfamily

    Selected InterPro protein domains (see all 9):
     IPR017441 Protein_kinase_ATP_BS
     IPR000239 GPCR_kinase
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS

    Graphical View of Domain Structure for InterPro Entry Q15835

    ProtoNet protein and cluster: Q15835

    3 Blocks protein domains:
    IPB000239 GPCR kinase signature
    IPB000342 Regulator of G-protein signalling (RGS) protein signature
    IPB000961 Protein kinase C-terminal domain


    UniProtKB/Swiss-Prot: RK_HUMAN, Q15835
    Similarity: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily
    Similarity: Contains 1 AGC-kinase C-terminal domain
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 RGS domain


    Find genes that share domains with GRK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RK_HUMAN, Q15835
    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
    Catalytic activity: ATP + [rhodopsin] = ADP + [rhodopsin] phosphate
    Enzyme regulation: Inhibited by phosphorylation of Ser-21 (By similarity)
    Biophysicochemical properties: Kinetic parameters: KM=3.5 uM for rhodopsin; KM=10.6 uM for ATP; Vmax=1132
    nmol/min/mg enzyme;

         Enzyme Numbers (IUBMB): EC 2.7.11.141 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity TAS1656454
    GO:0004674protein serine/threonine kinase activity ----
    GO:0004703G-protein coupled receptor kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with GRK1           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for GRK1:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased HPV18 LCR reporter a  Increased colony dispersion (i 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Grk1):
     cellular  nervous system  vision/eye 

    Find genes that share phenotypes with GRK1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Grk1tm1Citb for GRK1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GRK1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GRK1
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RK_HUMAN, Q15835: Membrane; Lipid-anchor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus2
    cytoskeleton1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0097381photoreceptor disc membrane TAS--

    Find genes that share ontologies with GRK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GRK1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1The phototransduction cascade
    The phototransduction cascade0.51
    Inactivation, recovery and regulation of the phototransduction cascade0.49
    Visual signal transduction- Rods0.51
    Visual signal transduction- Cones0.39
    Phototransduction0.51
    2Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    3Signaling by GPCR
    Signal Transduction0.58
    4Chemokine Signaling
    Chemokine signaling pathway0.33
    5Endocytosis
    Endocytosis


    Find genes that share SuperPaths with GRK1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for GRK1 (see all 6)
        Activation of PKA through GPCR
    Chemokine Signaling
    PKA Signaling
    Visual Cycle in Retinal Rods
    Colorectal Cancer Metastasis

    2 BioSystems Pathways for GRK1
        Visual signal transduction- Cones
    Visual signal transduction- Rods


    1 Reactome Pathway for GRK1
        Inactivation, recovery and regulation of the phototransduction cascade


    3 Kegg Pathways  (Kegg details for GRK1):
        Chemokine signaling pathway
    Endocytosis
    Phototransduction

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GRK1
    Interactions:

        GeneGlobe Interaction Network for GRK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GRK1 (Q158353 ENSP000003348764) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    CAV1Q031353, ENSP000003391914I2D: score=2 STRING: ENSP00000339191
    SNCBQ161433, ENSP000003080574I2D: score=1 STRING: ENSP00000308057
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    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0006915apoptotic process ----
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--
    GO:0008277regulation of G-protein coupled receptor protein signaling pathway TAS1656454

    Find genes that share ontologies with GRK1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GRK1 (RK)

    3 HMDB Compounds for GRK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    ZincZinc (see all 2)7440-66-6--

    Selected Novoseek inferred chemical compound relationships for GRK1 gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metarhodopsin ii 80.7 6 8608127 (1), 12707280 (1), 8260489 (1), 1386362 (1) (see all 5)
    sangivamycin 76.1 4 1309646 (2), 2207073 (1), 2365059 (1)
    threonine 40.1 4 9889371 (1), 1522899 (1), 9169442 (1)
    amp-pnp 34.7 1 8634260 (1)
    cgmp 34.2 4 8383684 (1), 11152756 (1), 1765153 (1)
    serine 28.3 5 9889371 (1), 1522899 (1), 9169442 (1), 1645191 (1)
    calcium 27.7 28 7926045 (3), 9872924 (2), 7592614 (2), 17020884 (2) (see all 13)
    phytate 24.7 1 1309646 (1)
    vitamin a 24 3 11078833 (1), 7947785 (1)
    atp 18.6 7 8634260 (2), 8383684 (1), 2207073 (1), 9188705 (1) (see all 5)



    Find genes that share compounds with GRK1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GRK1 gene: 
    NM_002929.2  

    Unigene Cluster for GRK1:

    G protein-coupled receptor kinase 1
    Hs.103501
    Unigene Representative Sequence: AK289912
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000335678(uc010tkf.2) ENST00000545304 ENST00000606140
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    Additional mRNA sequence: 

    AK289912.1 BC140945.1 L77503.1 U63973.1 

    1 DOTS entry:

    DT.40120423 

    3 AceView cDNA sequences:

    U63973 NM_002929 L77503 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GRK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCTGCAGA
    GRK1 Expression
    About this image


    GRK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     NULL (Sensory Organs)    fully expand to see all 2 entries
             Photoreceptor-like cells
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Photoreceptor-like cells
    GRK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GRK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.103501

    UniProtKB/Swiss-Prot: RK_HUMAN, Q15835
    Tissue specificity: Retinal-specific. Expressed in rods and cones cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRK1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GRK1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grk11 , 5 G protein-coupled receptor kinase 11, 5 83.96(n)1
    85.97(a)1
      8 (5.93 cM)5
    240131  NM_011881.31  NP_036011.31 
     134050815 
    lizard
    (Anolis carolinensis)
    Reptilia GRK16
    G protein-coupled receptor kinase 1
    63(a)
    1 ↔ 1
    GL343660.1(226386-246647)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia grk11 G protein-coupled receptor kinase 1 64.4(n)
    68.87(a)
      100486335  XM_002936972.2  XP_002937018.2 
    zebrafish
    (Danio rerio)
    Actinopterygii grk1a1 G protein-coupled receptor kinase 1 a 69.91(n)
    68.93(a)
      564152  NM_001034181.2  NP_001029353.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gprk16
    G protein-coupled receptor kinase 1
    26(a)
    1 → many
    2R(209942-358573)
    worm
    (Caenorhabditis elegans)
    Secernentea grk-26
    Protein GRK-2 (grk-2) mRNA, complete cds
    25(a)
    1 → many
    III(676122-680047) WBGene00001709


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GRK1 gene
    AKT12  GRK72  RPS6KB12  SGK32  GRK42  GRK62  C8orf44-SGK32  SGK22  
    ADRBK22  AKT32  SGK12  RPS6KB22  GRK52  ADRBK12  AKT22  
    Selected SIMAP similar genes for GRK1 using alignment to 4 protein entries:     RK_HUMAN (see all proteins) (see all similar genes):
    GRK5    GRK4    GRK6    GRK7    MARK4    RPS6KA2
    STK11    KIN27    PRKY    SGK1    STK32A    SGK2
    AKT3    RPS6KA3    AKT2    PRKACB    SGKL    DKFZp564L2416

    Find genes that share paralogs with GRK1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GRK1 (see all 580)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0379044
    Night blindness, congenital stationary, Oguchi type 2 (CSNBO2)4--see VAR_0379042 P H mis40--------
    VAR_0062154
    Night blindness, congenital stationary, Oguchi type 2 (CSNBO2)4--see VAR_0062152 V D mis40--------
    rs1826303451,2
    --95254968(+) CCCAGC/GTGTGT 1 -- us2k10--------
    rs1498612721,2
    --95254974(+) TGTGTG/TGCAGG 1 -- us2k10--------
    rs1458504421,2
    --95254986(+) GTGTCC/TGAGGT 1 -- us2k10--------
    rs1406722321,2
    --95255006(+) CTGTCC/TCAGGT 1 -- us2k10--------
    rs1138003551,2
    F--95255026(+) CTGTCC/TCAGAT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1464545581,2
    C--95255030(+) CTCAGA/GTGTGC 1 -- us2k10--------
    rs1409493991,2
    --95255074(+) CAGGTA/GTGCCC 1 -- us2k10--------
    rs1430730131,2
    --95255137(+) TCAGGG/TGTGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GRK1 (114321470 - 114440708 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GRK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748353CNV Deletion23290073
    esv2748350CNV Deletion23290073
    esv2748355CNV Deletion23290073
    dgv283e201CNV Deletion23290073
    esv2748349CNV Deletion23290073

    Human Gene Mutation Database (HGMD): GRK1
    Locus Specific Mutation Databases (LSDB): GRK1

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing GRK1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 180381   
    OMIM disorders: 613411  
    UniProtKB/Swiss-Prot: RK_HUMAN, Q15835
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for GRK1:    
    About MalaCards
    oguchi disease 2    oguchi disease 1    fundus albipunctatus    blindness
    night blindness, congenital stationary , 1d, autosomal recessive

    4 diseases from the University of Copenhagen DISEASES database for GRK1:
    Night blindness     Retinal degeneration     Leber congenital amaurosis     Fundus dystrophy

    Find genes that share disorders with GRK1           About GenesLikeMe

    5 Novoseek inferred disease relationships for GRK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oguchis disease 93.1 20 17070587 (3), 19753316 (2), 17765441 (2), 17402561 (2) (see all 12)
    night blindness 75.3 5 11078833 (1), 10549660 (1), 9501174 (1), 16687124 (1)
    retinitis pigmentosa 62.7 2 8810231 (1), 9872421 (1)
    night blindness, congenital stationary 62.5 3 9501174 (1), 10097103 (1)
    retinopathy 34 2 9419375 (1), 19834036 (1)


    Export disorders for GRK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GRK1 gene, integrated from 10 sources (see all 165):
    (articles sorted by number of sources associating them with GRK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and chromosomal localization of the gene for human rhodopsin kinase. (PubMed id 8812493)1, 2, 3, 9 Khani S.C....Dryja T.P. (Genomics 1996)
    2. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2, 3 Dunham A.... Ross M.T. (Nature 2004)
    3. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. (PubMed id 17070587)1, 2, 9 Hayashi T.... Kitahara K. (Ophthalmology 2007)
    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. (PubMed id 11717351)1, 2, 9 Weiss E.R.... Osawa S. (J. Neurosci. 2001)
    5. Molecular cloning and localization of rhodopsin kinase in the mammalian pineal. (PubMed id 9147475)1, 2, 9 Zhao X....Palczewski K. (Vis. Neurosci. 1997)
    6. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. (PubMed id 9020843)1, 2, 9 Yamamoto S.... Dryja T.P. (Nat. Genet. 1997)
    7. Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities. (PubMed id 15946941)1, 2 Horner T.J.... Weiss E.R. (J. Biol. Chem. 2005)
    8. Evaluation of the rhodopsin kinase gene in patients with retinitis pigmentosa. (PubMed id 9268593)1, 2 Yamamoto S.... Dryja T.P. (Exp. Eye Res. 1997)
    9. Molecular forms of human rhodopsin kinase (GRK1). (PubMed id 9478965)1, 9 Zhao X.... Palczewski K. (J. Biol. Chem. 1998)
    10. Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man. (PubMed id 9419375)1, 9 Cideciyan A.V....Palczewski K. (Proc. Natl. Acad. Sci. U.S.A. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6011 HGNC: 10013 AceView: GRK1 Ensembl:ENSG00000185974 euGenes: HUgn6011
    ECgene: GRK1 Kegg: 6011 H-InvDB: GRK1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GRK1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GRK1 Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the RHOK genehttp://www.retina-international.org/files/sci-news/rkmut.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GRK1 gene:
    Search GeneIP for patents involving GRK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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