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    GRK7 G protein-coupled receptor kinase 7 [ Homo sapiens (human) ]

    Gene ID: 131890, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GRK7provided by HGNC
    Official Full Name
    G protein-coupled receptor kinase 7provided by HGNC
    Primary source
    HGNC:HGNC:17031
    See related
    Ensembl:ENSG00000114124 MIM:606987; AllianceGenome:HGNC:17031
    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
    GPRK7
    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. 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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See GRK7 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (141749984..141819352)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (144510619..144566648)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (141482250..141538194)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 78, pseudogene Neighboring gene TPT1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20635 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:141456933-141457612 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:141457613-141458291 Neighboring gene ring finger protein 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:141481495-141481669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20637 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20638 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4237 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4238 Neighboring gene uncharacterized LOC105374134 Neighboring gene VISTA enhancer hs2041 Neighboring gene Sharpr-MPRA regulatory region 4874 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 25

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. Cideciyan AV, et al. Invest Ophthalmol Vis Sci, 2003 Mar. PMID 12601058
    2. Characterization of human GRK7 as a potential cone opsin kinase. Chen CK, et al. Mol Vis, 2001 Dec 21. PMID 11754336
    3. Differential functional expression of human myocardial G protein receptor kinases in left ventricular cardiac diseases. Dzimiri N, et al. Eur J Pharmacol, 2004 Apr 12. PMID 15087239
    4. A tale of two kinases in rods and cones. Osawa S, et al. Adv Exp Med Biol, 2012. PMID 22183412, Free PMC Article
    5. 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. Weiss ER, et al. J Neurosci, 2001 Dec 1. PMID 11717351, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Defects in GRK1 or GRK7 cause patients to suffer from an inability to properly deactivate rhodopsin leading to problems with recovery and dark adaptation.
      Title: A tale of two kinases in rods and cones.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. synthesis of 29 of GRK1 or GRK7 partial peptides that cover the entire sequence of GRK1/GRK7, to see which interacts with recoverin.
      Title: Amino acid residues in GRK1/GRK7 responsible for interaction with S-modulin/recoverin.
    6. Phosphorylation of GRK1 and GRK7 by PKA occurs in the dark, when cAMP levels in photoreceptor cells are elevated.
      Title: Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    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 protein autophosphorylation IMP
    Inferred from Mutant Phenotype
    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 signal transduction IEA
    Inferred from Electronic Annotation
    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 GRK7
    Names
    g protein-coupled receptor kinase GRK7
    NP_631948.1
    XP_047303405.1

    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)

    1. NM_139209.3 → NP_631948.1  rhodopsin kinase GRK7

      See identical proteins and their annotated locations for NP_631948.1

      Status: REVIEWED

      Source sequence(s)
      AC112504
      Consensus CDS
      CCDS3120.1
      UniProtKB/Swiss-Prot
      Q8WTQ7
      Related
      ENSP00000508022.1, ENST00000682958.1
      Conserved Domains (2) summary
      cd08749
      Location:40 → 181
      RGS_GRK7; Regulator of G protein signaling domain (RGS) found in G protein-coupled receptor kinase 7 (GRK7)
      cd05607
      Location:188 → 474
      STKc_GRK7; Catalytic domain of the Protein Serine/Threonine Kinase, G protein-coupled Receptor Kinase 7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      141749984..141819352
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447449.1 → XP_047303405.1  rhodopsin kinase GRK7 isoform X1

      UniProtKB/Swiss-Prot
      Q8WTQ7
      Related
      ENSP00000264952.2, ENST00000264952.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      144510619..144566648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WTQ7.1 GenPept UniProtKB/Swiss-Prot:Q8WTQ7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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