Affinage

ADGRV1

Adhesion G-protein coupled receptor V1 · UniProt Q8WXG9

Length
6306 aa
Mass
693.1 kDa
Annotated
2026-06-09
46 papers in source corpus 19 papers cited in narrative 19 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ADGRV1 (VLGR1) is an adhesion G-protein-coupled receptor that serves as the core structural and signaling component of the transient ankle-link complex at the base of developing cochlear stereocilia, where it is required for ankle link formation, stereocilia maturation, and mechanotransduction (PMID:16775142, PMID:17295842). Its extracellular domain bridges the base of stereocilia while its intracellular region scaffolds the Usher protein interactome: VLGR1 directly binds the PDZ scaffold whirlin and the usherin (USH2A) isoform b, co-localizing with them at the photoreceptor connecting cilium and hair-cell synaptic regions (PMID:16434480), and its C-terminal PDZ-binding motif is engaged by the tandem PDZ supramodule of PDZD7 (PMID:35836927). VLGR1 undergoes autoproteolytic cleavage at its GPS site to release a β-subunit that constitutively inhibits adenylate cyclase via Gαi; PDZD7 dampens this inhibition, and the regional cAMP-PKA signaling thereby controlled tunes WHRN phosphorylation and stabilizes USH2A, linking receptor signaling to assembly of the ankle-link complex (PMID:24962568, PMID:37066759). Loss of ADGRV1, or disruption of the USH2A–VLGR1 interaction, collapses USH2 complex integrity, mislocalizes its partners, and produces stereocilia disorganization and retinal degeneration with impaired rhodopsin trafficking (PMID:37066759, PMID:36810733, PMID:37371069). Beyond the sensory cell, ADGRV1 acts as a metabotropic mechanosensor at focal adhesions required for FA assembly, cell spreading and migration (PMID:33851099, PMID:36929698), regulates ER-to-mitochondria Ca²⁺ transfer at mitochondria-associated ER membranes (PMID:36139365), modulates autophagy (PMID:37002809), and supports astrocytic glutamate uptake and the glutamate-glutamine cycle (PMID:42002803). Its ciliary localization is maintained by a TRiC/CCT chaperonin–BBS co-complex, in whose absence ADGRV1 is depleted from cilia and degraded by the proteasome (PMID:37427378, PMID:40103630). Loss-of-function in mice causes audiogenic seizure susceptibility, establishing a neural requirement for the receptor (PMID:15207856, PMID:15606908).

Mechanistic history

Synthesis pass · year-by-year structured walk · 19 steps
  1. 2004 High

    Establishing that VLGR1's intracellular/transmembrane region is functionally essential in the nervous system, before any molecular role was known.

    Evidence del7TM knock-in mice with audiogenic seizure behavioral testing

    PMID:15207856

    Open questions at the time
    • Did not identify the molecular pathway linking VLGR1 loss to seizures
    • No tissue-level mechanism for the neural phenotype
  2. 2005 High

    Confirmed in an independent allele that VLGR1 loss-of-function alone is sufficient to cause seizure susceptibility, ruling out a dominant-negative artifact of the del7TM construct.

    Evidence Exon 2–4 deletion knockout mice with seizure testing and histology

    PMID:15606908

    Open questions at the time
    • No histological abnormality identified to explain the seizures
    • Cell type responsible not defined
  3. 2006 High

    Identified VLGR1 as the ankle link antigen and assigned it a concrete structural role in hair bundle organization and mechanotransduction.

    Evidence Mass spectrometry, targeted knockout, FM1-43 dye loading, whole-cell electrophysiology, ABR/DPOAE

    PMID:16775142

    Open questions at the time
    • Did not define the intracellular binding partners
    • Transient nature of ankle links not addressed
  4. 2006 High

    Placed VLGR1 within a defined macromolecular PDZ scaffold by demonstrating direct binding to whirlin and USH2A, framing it as a hub of the Usher interactome.

    Evidence Yeast two-hybrid, co-immunoprecipitation, immunohistochemistry in retina and cochlea

    PMID:16434480

    Open questions at the time
    • Binding stoichiometry and complex architecture unresolved
    • No signaling output linked to the scaffold yet
  5. 2007 High

    Pinpointed VLGR1 to the base of stereocilia by immunoelectron microscopy and linked its loss to a developmentally timed structural defect.

    Evidence Immunoelectron microscopy and knockout phenotyping with ABR/DPOAE

    PMID:17295842

    Open questions at the time
    • Mechanism of stereocilia disorganization not molecularly defined
    • Did not address VLGR1 outside the cochlea
  6. 2012 Medium

    Revealed VLGR1 variant-specific vesicular trafficking and a physical link to the SNARE machinery, expanding its role beyond a static scaffold.

    Evidence Confocal co-localization, sucrose gradients, trafficking inhibitors, SNAP25 co-IP in organ of Corti and brain

    PMID:23035094

    Open questions at the time
    • Functional consequence of SNAP25 interaction not tested
    • Single lab without reciprocal validation
  7. 2014 High

    Defined VLGR1 as a functional GPCR by demonstrating GPS autocleavage and constitutive Gαi-mediated inhibition of adenylate cyclase, with PDZD7 as a negative regulator of this signaling.

    Evidence Heterologous expression, cAMP/AC assays, Gαiq chimera, R6002A mutagenesis, PDZD7 co-expression

    PMID:24962568

    Open questions at the time
    • In vitro heterologous system; native signaling output not measured in hair cells at this stage
    • Downstream effectors of cAMP not yet identified
  8. 2021 High

    Extended VLGR1 function to non-sensory cells, defining it as a metabotropic mechanosensor in focal adhesions controlling spreading and migration.

    Evidence Affinity proteomics, in situ FA complex assembly, FA morphometry, mechanical stretch and migration assays in RPE1 cells and astrocytes

    PMID:33851099

    Open questions at the time
    • Direct mechanotransduction signaling cascade at FAs not resolved
    • Link between FA role and Usher pathology unclear
  9. 2022 High

    Established a role for VLGR1 at mitochondria-associated ER membranes in regulating ER-to-mitochondria Ca²⁺ transfer.

    Evidence Affinity proteomics, pull-down, PLA, electron microscopy, Ca²⁺ transient imaging in KO models

    PMID:36139365

    Open questions at the time
    • Specific MAM partners mediating Ca²⁺ effect not individually validated
    • Relationship to GPCR signaling unknown
  10. 2022 High

    Resolved the structural basis of the ADGRV1–PDZD7 interaction, showing both PDZD7 PDZ domains engage the ADGRV1 PBM as a stabilized supramodule and that deafness mutations weaken this binding.

    Evidence NMR, pull-down, affinity measurements, structural modeling, deafness-variant mutagenesis

    PMID:35836927

    Open questions at the time
    • In vitro structural work; in vivo consequence of supramodule disruption not tested here
    • Other scaffold contacts not mapped
  11. 2023 High

    Integrated scaffolding and signaling into a single model: ADGRV1 inhibits WHRN phosphorylation via cAMP-PKA to stabilize USH2A, and a pathogenic frameshift disrupts ankle-link assembly and mechanotransduction.

    Evidence Y6236fsX1 knock-in mice, MET recording, Y2H, FlAsH-BRET, NMR, ubiquitination assays

    PMID:37066759

    Open questions at the time
    • Spatial source of regional cAMP not directly visualized
    • WDSUB1-mediated ubiquitination feedback not fully mapped in vivo
  12. 2023 Medium

    Demonstrated that the USH2A–VLGR1 interaction is required for proper VLGR1 localization in photoreceptors and that its disruption drives retinal degeneration.

    Evidence USH2A c.2299delG knock-in mouse, immunofluorescence, ERG, OCT

    PMID:36810733

    Open questions at the time
    • VLGR1 claim is secondary to a USH2A-focused study
    • Causal ordering of mislocalization vs degeneration not isolated
  13. 2023 Medium

    Confirmed in zebrafish that ADGRV1 is required for USH2 complex integrity at the connecting cilium and for rhodopsin trafficking.

    Evidence CRISPR adgrv1 knockout zebrafish, immunohistochemistry, ERG

    PMID:37371069

    Open questions at the time
    • Direct mechanism of rhodopsin mistrafficking not defined
    • Single model organism, single lab
  14. 2023 Medium

    Refined the FA role by showing ADGRV1 is specifically required for focal adhesion assembly rather than disassembly.

    Evidence Nocodazole washout live imaging and FRAP in Vlgr1-deficient astrocytes

    PMID:36929698

    Open questions at the time
    • Molecular trigger of assembly defect unresolved
    • Single lab live-imaging readouts
  15. 2023 Medium

    Connected ADGRV1 to autophagy regulation through interactome, transcriptome and marker evidence.

    Evidence Affinity proteomics, transcriptome sequencing, LC3/p62 immunoblotting and immunocytochemistry in KO cells and patient fibroblasts

    PMID:37002809

    Open questions at the time
    • Whether VLGR1 directly regulates autophagosome formation versus indirectly is unclear
    • Single lab
  16. 2023 Medium

    Linked ADGRV1 to CIB2 and to TRiC/CCT and BBS chaperonins through overlapping interactomes at photoreceptor cilia.

    Evidence AP-MS, reciprocal co-IP, GO analysis, retinal immunohistochemistry

    PMID:37427378

    Open questions at the time
    • Functional role of CIB2 association not tested here
    • Single lab
  17. 2025 High

    Established the chaperonin dependence of ADGRV1 ciliary localization, showing the TRiC/CCT-BBS co-complex protects ADGRV1 from proteasomal degradation at cilia.

    Evidence Affinity proteomics, siRNA knockdown of ADGRV1/CCT2/CCT3/BBS6, ciliogenesis quantification, proteasome inhibitor rescue

    PMID:40103630

    Open questions at the time
    • Whether chaperonin acts on folding versus trafficking not distinguished
    • Link to Usher pathology not directly tested
  18. 2025 Medium

    Provided super-resolution evidence for temporally and spatially regulated ADGRV1 domain distribution in stereocilia, showing the extracellular domain disappears earlier than the GPCR domain.

    Evidence STED nanoscopy of juvenile mouse cochlear hair cells

    PMID:40836926

    Open questions at the time
    • No functional perturbation performed
    • Mechanism of differential domain turnover unknown
  19. 2026 Medium

    Extended ADGRV1 function to astrocyte glutamate homeostasis, linking its loss to impaired glutamate uptake and a dysregulated glutamate-glutamine cycle.

    Evidence Affinity proteomics, transcriptomics in patient cells and KO hippocampi, astrocyte morphometry, glutamate uptake assays and reporter imaging

    PMID:42002803

    Open questions at the time
    • Direct molecular link between ADGRV1 and glutamate transporters not established
    • Causal connection to seizure phenotype not demonstrated

Open questions

Synthesis pass · forward-looking unresolved questions
  • How VLGR1's GPCR signaling, focal-adhesion mechanosensing, MAM Ca²⁺ regulation, autophagy control, and astrocytic glutamate functions are mechanistically unified, and which are causal in seizures versus deaf-blindness, remains unresolved.
  • No single framework links the receptor's diverse cellular roles
  • The native ligand and physiological activation mechanism of the receptor are undefined
  • The molecular basis of audiogenic seizures is still not pinned to a specific pathway

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060089 molecular transducer activity 3 GO:0060090 molecular adaptor activity 2 GO:0098631 cell adhesion mediator activity 1 GO:0098772 molecular function regulator activity 1 GO:0140299 molecular sensor activity 1
Localization
GO:0005886 plasma membrane 3 GO:0005929 cilium 3 GO:0005739 mitochondrion 1 GO:0005768 endosome 1 GO:0005783 endoplasmic reticulum 1 GO:0005856 cytoskeleton 1
Pathway
R-HSA-9709957 Sensory Perception 3 R-HSA-1474244 Extracellular matrix organization 2 R-HSA-162582 Signal Transduction 2 R-HSA-112316 Neuronal System 1 R-HSA-9612973 Autophagy 1
Partners
BBS6CCT2CIB2PDZD7SNAP25USH2AWDSUB1WHRN
Complex memberships
TRiC/CCT-BBS chaperonin co-complexankle-link / USH2 complexfocal adhesion complexmitochondria-associated ER membrane (MAM)

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2006 VLGR1 (ADGRV1) is the molecular identity of the ankle link antigen in auditory hair bundles; it is required for ankle link formation at the base of developing stereocilia. Loss of Vlgr1 (Vlgr1/del7TM) abolishes ankle links, causes disorganized hair bundles, impairs mechanotransduction in cochlear hair cells (FM1-43 dye loading and whole-cell recordings), and results in severe deafness. Mass spectrometry identification, immunoblotting, targeted Vlgr1 mouse knockout, FM1-43 dye loading, whole-cell electrophysiology, auditory brainstem recording, distortion product otoacoustic emissions The Journal of neuroscience High 16775142
2006 VLGR1b directly associates with the PDZ scaffold protein whirlin and with USH2A isoform b; these three proteins co-localize at synaptic regions of photoreceptor cells and outer hair cells, at the connecting cilium, and in spiral ganglion neurons, placing VLGR1 within a macromolecular PDZ scaffold (Usher protein interactome). Yeast two-hybrid, co-immunoprecipitation, immunohistochemistry/confocal co-localization in retina and cochlea Human molecular genetics High 16434480
2004 Loss of the transmembrane and cytoplasmic domains of VLGR1 (Vlgr1/del7TM knock-in) causes audiogenic seizure susceptibility in mice, demonstrating that the intracellular/transmembrane region of VLGR1 is required for its function in the nervous system. Targeted gene mutation (del7TM knock-in mice), audiogenic seizure behavioral testing, Western blot Molecular and cellular neurosciences High 15207856
2005 Vlgr1 knockout mice (lacking exons 2–4) develop audiogenic seizure susceptibility without priming and without apparent brain histological abnormalities, confirming VLGR1 loss-of-function as sufficient to cause seizures. Knockout mouse generation (exon 2–4 deletion), audiogenic seizure behavioral testing, histology Journal of neurochemistry High 15606908
2007 Vlgr1 protein localizes specifically to the base of stereocilia (within ~200–400 nm from the hair cell apical surface) as shown by immunoelectron microscopy; loss of Vlgr1 causes stereocilia disorganization starting at postnatal day 8, establishing a structural role for VLGR1 in stereocilia maturation. Confocal microscopy, immunoelectron microscopy, ABR, DPOAE, Vlgr1 knockout mouse model Genes to cells High 17295842
2014 VLGR1 undergoes autocleavage at the GPS/GPCR proteolytic site to produce two fragments. The cleaved VLGR1 β-subunit constitutively inhibits adenylate cyclase (AC) through Gαi coupling. An R6002A mutation in intracellular loop 2 abolishes Gαi coupling. PDZD7 overexpression decreases AC inhibition by the VLGR1 β-subunit, identifying PDZD7 as a negative regulator of VLGR1 Gαi signaling. A pathogenic VLGR1 Y6236fsx1 mutant shows increased AC inhibition and is insensitive to PDZD7 regulation. Heterologous expression, cAMP/AC activity assays, Gαiq chimera co-expression, site-directed mutagenesis (R6002A), co-expression with PDZD7 The Journal of biological chemistry High 24962568
2012 Specific VLGR1 variants undergo differential vesicular trafficking in cochlear hair cells: apically trafficked VLGR1 co-localizes with the early endosomal marker Rab5, while basally trafficked VLGR1 associates with membrane microdomains and physically interacts with SNAP25 (co-immunoprecipitation in organ of Corti and brain), implicating VLGR1 in vesicle docking/fusion at the basolateral compartment. Confocal co-localization, sucrose density gradients, vesicle trafficking inhibitors, co-immunoprecipitation (SNAP25–VLGR1) The Journal of neuroscience Medium 23035094
2021 VLGR1/ADGRV1 localizes to focal adhesions (FAs) and assembles in FA protein complexes in situ. Depletion or loss of VLGR1 decreases FA number and length in hTERT-RPE1 cells and mouse astrocytes. VLGR1 depletion reduces cell spreading, migration kinetics, and response to mechanical stretch, defining VLGR1 as a metabotropic mechanosensor in FAs. Affinity proteomics, immunofluorescence, FA morphometric analysis in cells and primary astrocytes from Vlgr1 mutant mice, mechanical stretch assay, migration kinetics assay iScience High 33851099
2022 VLGR1/ADGRV1 localizes to mitochondria-associated ER membranes (MAMs) and interacts with key MAM proteins (confirmed by pull-down and proximity ligation assays). Loss of VLGR1 in mouse tissues and cells alters MAM architecture and dysregulates Ca²⁺ transfer from ER to mitochondria, establishing VLGR1 as a regulator of Ca²⁺ homeostasis at MAMs. Affinity proteomics, in vitro pull-down, proximity ligation assay, immunocytochemistry, electron microscopy, Ca²⁺ transient monitoring in VLGR1-deficient mouse models and cells Cells High 36139365
2023 ADGRV1 regulates autophagy: affinity proteomics identified autophagosome components as VLGR1 interactors; transcriptome analysis of Vlgr1/del7TM retinae showed altered autophagy gene expression; loss of VLGR1 in hTERT-RPE1 cells and patient-derived fibroblasts evokes autophagy as measured by LC3 and p62 marker immunoblotting and immunocytochemistry. Affinity proteomics, whole-transcriptome sequencing, immunoblotting (LC3, p62), immunocytochemistry in VLGR1-deficient cells and patient-derived fibroblasts Basic & clinical pharmacology & toxicology Medium 37002809
2023 The ADGRV1 Y6236fsX1 mutation disrupts interaction between ADGRV1 and other ankle-link complex (ALC) components (USH2A, WHRN), causing stereocilia disorganization and MET deficits. ADGRV1 normally inhibits WHRN phosphorylation through regional cAMP-PKA signaling, stabilizing USH2A. The E3 ligase WDSUB1 binds phosphorylated WHRN and regulates USH2A ubiquitination. FlAsH-BRET, NMR, and mutagenesis defined ALC architectural organization and interaction motifs. Adgrv1 Y6236fsX1 knock-in mouse model, MET current recording, yeast two-hybrid, FlAsH-BRET assay, NMR spectrometry, site-directed mutagenesis, cAMP-PKA signaling assays, ubiquitination assays Advanced science High 37066759
2022 The two N-terminal PDZ domains of PDZD7 both bind to the C-terminal PDZ-binding motif (PBM) of ADGRV1, with critical contribution from atypical C-terminal β-extensions. The two PDZ domains form a supramodule in solution stabilized upon PBM binding. Two deafness-causing mutations in PDZD7 PDZ binding grooves reduce stability and binding to ADGRV1 PBM. NMR spectroscopy, pull-down assays, binding affinity measurements, structural modeling, site-directed mutagenesis of deafness variants Frontiers in molecular biosciences High 35836927
2023 ADGRV1 and CIB2 (USH1J protein) mutually interact (co-immunoprecipitation). Their interactomes show high overlap and both proteins interact with the TRiC/CCT chaperonin complex and BBS chaperonin-like proteins. ADGRV1 and CIB2 co-localize with these partners at photoreceptor cilia. Tandem affinity purification/mass spectrometry, co-immunoprecipitation, GO term analysis, immunohistochemistry on retinal sections Frontiers in cell and developmental biology Medium 37427378
2025 ADGRV1 localizes to the base of primary cilia and interacts with TRiC/CCT chaperonins and BBS chaperonin-like proteins. Knockdown of ADGRV1, CCT2/3, or BBS6 each reduces ciliated cell numbers and cilium length. ADGRV1 localization to cilia depends on the TRiC/CCT-BBS co-complex; in its absence, ADGRV1 is depleted from cilia and degraded via the proteasome. Affinity proteomics, immunofluorescence, siRNA knockdown of ADGRV1/CCT2/CCT3/BBS6, ciliogenesis phenotype quantification, proteasome inhibitor rescue experiments Frontiers in cell and developmental biology High 40103630
2023 VLGR1/ADGRV1 controls focal adhesion (FA) turnover: in Vlgr1-deficient astrocytes, FA de novo assembly is significantly delayed (nocodazole washout assay) while FA disassembly is unaffected; FRAP experiments show reduced turnover kinetics in VLGR1-deficient FAs, establishing VLGR1 as specifically required for FA assembly. Nocodazole washout live-cell imaging of paxillin-DsRed2, FRAP experiments in Vlgr1-deficient astrocytes Basic & clinical pharmacology & toxicology Medium 36929698
2023 The usherin c.2299delG mutation causes mislocalization of VLGR1 (and whirlin) in photoreceptors in a knock-in mouse, demonstrating that the USH2A–VLGR1 interaction is required for proper VLGR1 localization; disruption of this interaction underlies retinal degeneration. USH2A c.2299delG knock-in mouse, immunofluorescence for VLGR1 and whirlin localization, ERG, OCT/structural analysis Nature communications Medium 36810733
2023 In adgrv1 knockout zebrafish, Adgrv1 is absent from the photoreceptor connecting cilium; absence leads to reduced levels of usherin and Whrnb at the connecting cilium, increased aberrantly localized rhodopsin in photoreceptor cell bodies, and decreased ERG B-wave amplitudes, indicating ADGRV1 is required for USH2 complex integrity and rhodopsin trafficking in the retina. CRISPR/Cas9 adgrv1 knockout zebrafish, immunohistochemistry, ERG recording Cells Medium 37371069
2025 STED nanoscopy of juvenile mouse hair cells revealed that the extracellular domain of ADGRV1 is no longer detectable after postnatal day 12, while the GPCR (transmembrane/intracellular) domain persists until P21. ADGRV1 and PDZD7 show highly asymmetric distribution within stereocilia rows and between inner and outer hair cells, with strong co-localization, demonstrating tightly regulated subcellular targeting. STED super-resolution nanoscopy on juvenile mouse cochlear hair cells iScience Medium 40836926
2026 ADGRV1 in hippocampal astrocytes regulates glutamate homeostasis: affinity proteomics showed ADGRV1 interacts with astrocyte-enriched proteins; Adgrv1-deficient mouse hippocampi show reduced astrocyte numbers and altered morphology; glutamate uptake is significantly reduced in Adgrv1-deficient astrocytes (colorimetric assay and live-cell imaging of genetic glutamate reporter); key enzymes of the glutamate-glutamine cycle are dysregulated; astrocytic support for neuronal development is compromised. Affinity proteomics, transcriptome analysis (USH2C patient cells and Adgrv1 KO mouse hippocampi), astrocyte morphometry, colorimetric glutamate uptake assay, live-cell imaging with genetic glutamate reporter, expression analysis of glutamate cycle enzymes Acta neuropathologica communications Medium 42002803

Source papers

Stage 0 corpus · 46 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. American journal of human genetics 273 14740321
2006 The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. The Journal of neuroscience : the official journal of the Society for Neuroscience 174 16775142
2006 The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Human molecular genetics 157 16434480
2004 Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice. Molecular and cellular neurosciences 66 15207856
2014 Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein. The Journal of biological chemistry 60 24962568
2005 Vlgr1 knockout mice show audiogenic seizure susceptibility. Journal of neurochemistry 52 15606908
2005 Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Investigative ophthalmology & visual science 51 15671307
2007 Vlgr1 is required for proper stereocilia maturation of cochlear hair cells. Genes to cells : devoted to molecular & cellular mechanisms 48 17295842
2017 ADGRV1 is implicated in myoclonic epilepsy. Epilepsia 42 29266188
2021 Adhesion G protein-coupled receptor VLGR1/ADGRV1 regulates cell spreading and migration by mechanosensing at focal adhesions. iScience 35 33851099
2012 The very large G protein coupled receptor (Vlgr1) in hair cells. Journal of molecular neuroscience : MN 25 23180093
2022 The Adhesion GPCR VLGR1/ADGRV1 Regulates the Ca2+ Homeostasis at Mitochondria-Associated ER Membranes. Cells 23 36139365
2018 A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 22 29961073
2022 ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities. Frontiers in molecular neuroscience 20 35813073
2022 Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1. Molecules (Basel, Switzerland) 19 35630584
2012 Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells. The Journal of neuroscience : the official journal of the Society for Neuroscience 18 23035094
2005 Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation. Human genetics 17 16273391
2023 Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology. Cells 15 37371069
2020 Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4. Children (Basel, Switzerland) 15 32962041
2005 Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish. Gene 15 15979825
2023 The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1. Nature communications 14 36810733
2023 Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 14 37066759
2021 Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy. Frontiers in neurology 14 34744978
2019 Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans. Scientific reports 14 31792237
2023 The adhesion G protein-coupled receptor VLGR1/ADGRV1 controls autophagy. Basic & clinical pharmacology & toxicology 13 37002809
2023 Monitoring paxillin in astrocytes reveals the significance of the adhesion G protein coupled receptor VLGR1/ADGRV1 for focal adhesion assembly. Basic & clinical pharmacology & toxicology 11 36929698
2023 Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins. Frontiers in cell and developmental biology 11 37427378
2017 Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. Molecular biology reports 11 28951997
2009 Deficiency of Vlgr1 resulted in deafness and susceptibility to audiogenic seizures while the degree of hearing impairment was not correlated with seizure severity in C57BL/6- and 129-backcrossed lines of Vlgr1 knockout mice. Neuroscience letters 11 19539720
2022 Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children. Seizure 9 36399868
2021 Biallelic ADGRV1 variants are associated with Rolandic epilepsy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 9 34160719
2017 A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions. The Journal of allergy and clinical immunology 9 28927820
2021 Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush. International journal of molecular sciences 8 34638692
2018 Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. Ophthalmic genetics 7 29883260
2022 Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Frontiers in genetics 5 35651951
2021 Putative Causal Variant on Vlgr1 for the Epileptic Phenotype in the Model Wistar Audiogenic Rat. Frontiers in neurology 5 34177758
2021 Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome. Heliyon 5 34458631
2025 Genotypic and phenotypic characteristics of ADGRV1 mutations in four children and functional validation in a zebrafish model. Gene 4 39826705
2022 Deciphering the Molecular Interaction Between the Adhesion G Protein-Coupled Receptor ADGRV1 and its PDZ-Containing Regulator PDZD7. Frontiers in molecular biosciences 4 35836927
2025 The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to the base of primary cilia. Frontiers in cell and developmental biology 3 40103630
2023 De novo ADGRV1 variant in a patient with ictal asystole provides novel clues for increased risk of SUDEP. Acta epileptologica 3 40217298
2025 Super-resolution mapping of the ankle link proteins ADGRV1 and PDZD7 in developing auditory hair cells. iScience 1 40836926
2014 A semiconductive superhard FeB₄ phase from first-principles calculations. Physical chemistry chemical physics : PCCP 1 25204967
2026 The adhesion GPCR ADGRV1 controls glutamate homeostasis in hippocampal astrocytes supporting neurons. Acta neuropathologica communications 0 42002803
2025 Novel ADGRV1 pathogenic variant associated to sleep-related hypermotor epilepsy. Epileptic disorders : international epilepsy journal with videotape 0 40673693
2025 Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa. Molecular therapy. Nucleic acids 0 41036464

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