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

Summary

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

Location:: 3q23

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (141749984..141819352)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (144510619..144566648)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (141482250..141538194)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
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

EC 2.7.11.14

XP_047303405.1

EC 2.7.11.14

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)

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