ArticleBMC genomics2016
Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133).
Article in BMC genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Genome-wide association analysis revealed novel candidate genes for body measurement traits in indigenous Gudali and crossbred Simgud in Cameroon.BMC genomics · 2025Article
- The mechanosensitive adhesion G protein-coupled receptor 133 (GPR133/ADGRD1) enhances bone formation.Signal transduction and targeted therapy · 2025Article
- Whole genome sequencing identified genomic diversity and candidated genes associated with economic traits in Northeasern Merino in China.Frontiers in genetics · 2024Article
- Activation of the adhesion G protein-coupled receptor GPR133 by antibodies targeting its N-terminus.The Journal of biological chemistry · 2022Article
- Mechanism of tethered agonist-mediated signaling by polycystin-1.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Emerging roles of adhesion G protein-coupled receptors.Biochemical Society transactions · 2021Review
- Control of oviductal fluid flow by the G-protein coupled receptor Adgrd1 is essential for murine embryo transit.Nature communications · 2021Article
- Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array.PloS one · 2021Article
- Adhesion GPCRs as a paradigm for understanding polycystin-1 G protein regulation.Cellular signalling · 2020Review
- Adhesion G protein-coupled receptors: opportunities for drug discovery.Nature reviews. Drug discovery · 2019Article
- Naturally Occurring Missense MRGPRX2 Variants Display Loss of Function Phenotype for Mast Cell Degranulation in Response to Substance P, Hemokinin-1, Human β-Defensin-3, and Icatibant.Journal of immunology (Baltimore, Md. : 1950) · 2018Article
- Adhesion G protein-coupled receptors in glioblastoma.Neuro-oncology advancesReview
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Authors and funding
4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundA large number of human inherited and acquired diseases and phenotypes are caused by mutations in G protein-coupled receptors (GPCR). Genome-wide association studies (GWAS) have shown that variations in the ADGRD1 (GPR133) locus are linked with differences in metabolism, human height and heart frequency. ADGRD1 is a Gs protein-coupled receptor belonging to the class of adhesion GPCRs.
resultsAnalysis of more than 1000 sequenced human genomes revealed approximately 9000 single nucleotide polymorphisms (SNPs) in the human ADGRD1 as listed in public data bases. Approximately 2.4 % of these SNPs are located in exons resulting in 129 non-synonymous SNPs (nsSNPs) at 119 positions of ADGRD1. However, the functional relevance of those variants is unknown. In-depth characterization of these amino acid changes revealed several nsSNPs (A448D, Q600stop, C632fs [frame shift], A761E, N795K) causing full or partial loss of receptor function, while one nsSNP (F383S) significantly increased basal activity of ADGRD1.
conclusionOur results show that a broad spectrum of functionally relevant ADGRD1 variants is present in the human population which may cause clinically relevant phenotypes, while being compatible with life when heterozygous.
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