ADGRV1 | Adhesion Class GPCRs | IUPHAR/BPS Guide to PHARMACOLOGY

Top ▲

ADGRV1

Target not currently curated in GtoImmuPdb

Target id: 189

Nomenclature: ADGRV1

Family: Adhesion Class GPCRs

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates.  » Email us

Gene and Protein Information
Adhesion G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 6307 5q13 ADGRV1 adhesion G protein-coupled receptor V1 9,15,21
Mouse 7 6298 13 C3 Adgrv1 adhesion G protein-coupled receptor V1
Rat 7 - 2q11 Adgrv1 adhesion G protein-coupled receptor V1
Previous and Unofficial Names
FEB4 | MASS1 | USH2C | VLGR1 | very large G protein-coupled receptor 1 | GPR98 (G protein-coupled receptor 98)
Database Links
Specialist databases
GPCRDB gpr98_mouse (Mm)
Other databases
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Agonist Comments
No ligands identified: orphan receptor.
Tissue Distribution
Many tissues including ovary, small intestine, colon, gastric mucosa, kidney, adrenal gland, testis, lung, thyroid, skeletal muscle, tongue, heart, brain, eye, cochlea, spinal cord and foreskin fibroblasts, not detected in spleen, placenta and leukocytes, conflicting data for liver
Species:  Human
Technique:  RT-PCR
References:  15,21,27
Osteoblasts
Species:  Mouse
Technique:  RT-PCR
References:  25
Brain
Species:  Mouse
Technique:  in situ hybridisation
References:  15-16
Cochlea, retina
Species:  Mouse
Technique:  Immunohistochemistry
References:  6-7,12,14,18,22-23,26,29-33
Retina, inner ear, brain
Species:  Mouse
Technique:  Western blot
References:  7,22,31-32
Cochlea, retina
Species:  Mouse
Technique:  Electron microscopy
References:  6,12,14,18,29
Brain, kidney and lung, not detected in heart, liver, sceletal muscle, small intestine and spleen
Species:  Mouse
Technique:  RT-PCR and in situ hybridisation
References:  15-16,24
Embryo: high level expression restricted to the developing CNS and eye.
Species:  Mouse
Technique:  in situ hybridisation.
References:  15
Cochlea
Species:  Rat
Technique:  Immunohistochemistry
References:  22
Expression Datasets

Show »

Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). Anatomical profiling of G protein-coupled receptor expression. Cell, 135(3): 561-71. [PMID:18984166] [Raw data: website]

There should be a chart of expression data here, you may need to enable JavaScript!
Physiological Functions
Adgrv1 is required for correct development of auditory hair bundles in cochlear hair cells
Species:  Mouse
Tissue:  Cochlea
References:  14,18,29
Adgrv1 is required for membrane-membrane adhesion
Species:  Mouse
Tissue:  Retina, cochlea
References:  12,14,18,29
Adgrv1 is necessary for healthy bone mineral density
Species:  Mouse
Tissue:  Bone
References:  25
Adgrv1 is involved in neurogenesis
Species:  Mouse
Tissue:  Brain
References:  15
ADGRV1 is necessary for healthy bone mineral density
Species:  Human
Tissue:  Bone
References:  25
Physiological Consequences of Altering Gene Expression
Patients with nonsense mutations show febrile and afebrile seizures
Species:  Human
Tissue: 
Technique:  Naturally occuring mutation
References:  19
Loss of outer hair cells, stereocilia are not properly developed resulting in impaired cochlea function
Species:  Mouse
Tissue:  Cochlea
Technique:  Gene knockouts
References:  29
Loss of fibrous links in retina of Vlgr1del7TM mice resulting in mild visual abnormalities
Species:  Mouse
Tissue:  Retina
Technique:  Mutant mice expressing truncated Vlgr1
References:  12,14
Knock-out mice show mechanical fragility of cortical bone and decreased bone mineral density. RANKL mRNA expression is upregulated in GPR98-KO osteoblasts.
Species:  Mouse
Tissue:  Osteoblasts, bone
Technique:  Gene knockouts
References:  25
Vlgr1del7TM mice lack ankle links and hair bundles are disorganized, mechanotransduction is impaired in inner and outer hair cells. The resulting phenotype is deafness by three weeks of age.
Species:  Mouse
Tissue:  Cochlea
Technique:  Mutant mice expressing truncated Vlgr1
References:  14
Usher patients showed abnormal photoreceptor layers and retinal pigment epithelial (RPE) structural defects
Species:  Human
Tissue:  Retina
Technique:  Naturally occuring mutations
References:  10
Knockout causes abnormal mechanoelectrical transduction currents (MET); affects stereociliar distribution of adenylyl cyclase 6 and results in the absence of usherin, vezatin and whirlin at the stereocilia base
Species:  Mouse
Tissue:  Cochlea
Technique:  Gene knockouts
References:  18
Knockout or truncation of Adgrv1 are linked with susceptibility to audiogenic seizures
Species:  Mouse
Tissue:  Cochlea
Technique:  Mutant mice expressing no or truncated Vlgr1
References:  16,24,28
Xenobiotics Influencing Gene Expression
~ 2 fold increase of transcription upon treatment with cycloleucin, an inhibitor of methionine adenosyltransferase
Species:  Human
Tissue:  Lymphoblasts
Technique:  Microarray
References:  4
Phenotypes, Alleles and Disease Models Mouse data from MGI

Show »

Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Gpr98frings Gpr98frings/Gpr98frings
BUB/BnJ
MGI:1274784  MP:0004738 abnormal brainstem auditory evoked potential PMID: 15820310 
Gpr98rda Gpr98rda/Gpr98rda
involves: C57BL/6J
MGI:1274784  MP:0004738 abnormal brainstem auditory evoked potential PMID: 17329413 
Gpr98tm2Msat Gpr98tm2Msat/Gpr98tm2Msat
involves: 129P2/OlaHsd
MGI:1274784  MP:0004577 abnormal cochlear hair cell inter-stereocilial links PMID: 17295842 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology PMID: 16775142 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
involves: 129P2/OlaHsd * C57BL/6J
MGI:1274784  MP:0004521 abnormal cochlear hair cell stereociliary bundle morphology PMID: 17567809 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004434 abnormal cochlear outer hair cell physiology PMID: 16775142 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
involves: 129P2/OlaHsd * C57BL/6J
MGI:1274784  MP:0004434 abnormal cochlear outer hair cell physiology PMID: 17567809 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004022 abnormal cone electrophysiology PMID: 16775142 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004431 abnormal hair cell mechanoelectric transduction PMID: 16775142 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
involves: 129P2/OlaHsd * C57BL/6J
MGI:1274784  MP:0004431 abnormal hair cell mechanoelectric transduction PMID: 17567809 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004532 abnormal inner hair cell stereociliary bundle morphology PMID: 16775142 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
involves: 129P2/OlaHsd * C57BL/6J
MGI:1274784  MP:0004532 abnormal inner hair cell stereociliary bundle morphology PMID: 17567809 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004491 abnormal orientation of outer hair cell stereociliary bundles PMID: 16775142 
Gpr98rda Gpr98rda/Gpr98rda
involves: C57BL/6J
MGI:1274784  MP:0004491 abnormal orientation of outer hair cell stereociliary bundles PMID: 17329413 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004527 abnormal outer hair cell stereociliary bundle morphology PMID: 16775142 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
involves: 129P2/OlaHsd * C57BL/6J
MGI:1274784  MP:0004527 abnormal outer hair cell stereociliary bundle morphology PMID: 17567809 
Gpr98frings Gpr98frings/Gpr98frings
BUB/BnJ
MGI:1274784  MP:0004527 abnormal outer hair cell stereociliary bundle morphology PMID: 15820310 
Gpr98tm2Msat Gpr98tm2Msat/Gpr98tm2Msat
involves: 129P2/OlaHsd
MGI:1274784  MP:0004527 abnormal outer hair cell stereociliary bundle morphology PMID: 17295842 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0002090 abnormal vision PMID: 16775142 
Gpr98tm2Msat Gpr98tm2Msat/Gpr98tm2Msat
involves: 129P2/OlaHsd
MGI:1274784  MP:0003146 absent cochlear ganglion PMID: 17295842 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004582 absent cochlear hair bundle ankle links PMID: 16775142 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
involves: 129P2/OlaHsd * C57BL/6J
MGI:1274784  MP:0004582 absent cochlear hair bundle ankle links PMID: 17567809 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004737 absent distortion product otoacoustic emissions PMID: 16775142 
Gpr98tm2Msat Gpr98tm2Msat/Gpr98tm2Msat
involves: 129P2/OlaHsd
MGI:1274784  MP:0004737 absent distortion product otoacoustic emissions PMID: 17295842 
Gpr98frings Gpr98frings/Gpr98frings
RB/1
MGI:1274784  MP:0001496 audiogenic seizures
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0001496 audiogenic seizures PMID: 15207856 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
involves: 129P2/OlaHsd * C57BL/6J
MGI:1274784  MP:0001496 audiogenic seizures PMID: 15606908 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
B6.129P2-Gpr98
MGI:1274784  MP:0001496 audiogenic seizures PMID: 15606908 
Gpr98frings Gpr98frings/Gpr98frings
BUB/BnJ
MGI:1274784  MP:0001496 audiogenic seizures PMID: 15820310 
Gpr98frings Gpr98frings/Gpr98frings
BUB/BnJ
MGI:1274784  MP:0002857 cochlear ganglion degeneration PMID: 15820310 
Gpr98frings Gpr98frings/Gpr98frings
BUB/BnJ
MGI:1274784  MP:0004362 cochlear hair cell degeneration PMID: 15820310 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004398 cochlear inner hair cell degeneration PMID: 16775142 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004404 cochlear outer hair cell degeneration PMID: 16775142 
Gpr98tm2Msat Gpr98tm2Msat/Gpr98tm2Msat
involves: 129P2/OlaHsd
MGI:1274784  MP:0004404 cochlear outer hair cell degeneration PMID: 17295842 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0001967 deafness PMID: 16775142 
Cdh23ahl|Gpr98frings Gpr98frings/Gpr98frings,Cdh23ahl/Cdh23ahl
involves: BUB/BnJ * CAST/EiJ
MGI:1274784  MGI:1890219  MP:0001967 deafness PMID: 15820310 
Cdh23ahl|Gpr98frings Gpr98frings/Gpr98frings,Cdh23ahl/Cdh23ahl
involves: BUB/BnJ * MOLD/RkJ
MGI:1274784  MGI:1890219  MP:0001967 deafness PMID: 15820310 
Gpr98frings Gpr98frings/Gpr98frings
BUB/BnJ
MGI:1274784  MP:0001967 deafness PMID: 15820310 
Cdh23ahl|Gpr98frings Cdh23ahl/Cdh23ahl,Gpr98frings/Gpr98frings
involves: BUB/BnJ * RB/1
MGI:1274784  MGI:1890219  MP:0001967 deafness PMID: 15820310 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004765 decreased brainstem auditory evoked potential PMID: 16775142 
Gpr98tm2Msat Gpr98tm2Msat/Gpr98tm2Msat
involves: 129P2/OlaHsd
MGI:1274784  MP:0004765 decreased brainstem auditory evoked potential PMID: 17295842 
Gpr98rda Gpr98rda/Gpr98rda
involves: C57BL/6J
MGI:1274784  MP:0001489 decreased startle reflex PMID: 17329413 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0009763 increased sensitivity to induced morbidity/mortality PMID: 15207856 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
involves: 129P2/OlaHsd * C57BL/6J
MGI:1274784  MP:0009763 increased sensitivity to induced morbidity/mortality PMID: 15606908 
Gpr98tm1Msat Gpr98tm1Msat/Gpr98tm1Msat
B6.129P2-Gpr98
MGI:1274784  MP:0009763 increased sensitivity to induced morbidity/mortality PMID: 15606908 
Gpr98frings Gpr98frings/Gpr98frings
BUB/BnJ
MGI:1274784  MP:0004748 increased susceptibility to age-related hearing loss PMID: 15820310 
Cdh23ahl|Gpr98frings Cdh23ahl/Cdh23ahl,Gpr98frings/Gpr98frings
involves: BUB/BnJ * RB/1
MGI:1274784  MGI:1890219  MP:0004748 increased susceptibility to age-related hearing loss PMID: 15820310 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0000043 organ of Corti degeneration PMID: 16775142 
Gpr98tm1Pwh Gpr98tm1Pwh/Gpr98tm1Pwh
involves: 129S1/Sv * C57BL/6J
MGI:1274784  MP:0004586 pillar cell degeneration PMID: 16775142 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Febrile and afebrile seizures
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Nonsense Human S2832X 19
Disease:  Febrile seizures, familial, 4; FEB4
OMIM: 604352
References:  20
Disease:  Usher syndrome, type IIC; USH2C
Synonyms: Usher syndrome [Disease Ontology: DOID:0050439]
Usher syndrome type 2 [Orphanet: ORPHA231178]
Disease Ontology: DOID:0050439
OMIM: 605472
Orphanet: ORPHA231178
Comments: 
References:  5,19,24,27
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Frameshift Human V2321Afs*4 11
Frameshift Human A3579Vfs*6 11
Frameshift Human E2591Kfs*18 11
Frameshift Human S5048Rfs*29 11
Frameshift Human I5953Vfs*42 8
Frameshift: Deletion Human T6244X 18732_18750del19bp A 19-bp deletion leads to a frameshift and prematurely truncated protein. 27
Frameshift: Deletion Human Q753fs*8 c.2258_2270delAAGTGCTGAAATC 3,5
Frameshift: Deletion Human L995Hfs*2 c.2984_2988del Exon 16 1
Frameshift: Deletion Human F112fs*29 c.333_334delTT 3
Frameshift: Deletion Human K1786Ifs*8 c.5356_5357delAA Exon 25 5
Frameshift: Deletion Human V5647Gfs*7 c.16940delT 1
Frameshift: Deletion Human M2931Wfs*11 8790delC Exon 39 13,27
Frameshift: Deletion Human V3363Bfs*11 c.10085_10088delAAGT Exon 48 5,11
Frameshift: Deletion Human S3646M*fs27 c.10935_10938del 1
Frameshift: Deletion Human E4186*fs17 c.12552_12553delGG 3
Frameshift: Deletion Human M5890Vfs*10 c.17668_17669del 1,3
Frameshift: Deletion Human A6216Hfs*13 c.18646delG Exon 89 5
Frameshift: Duplication Human P522Sfs*8 1563dupT Exon 9 3
Frameshift: Duplication Human S4441Lfs*9 c.13320dupC 1
Frameshift: Duplication Human Q1316Tfs*26 c.3945dupA 1
Frameshift: Duplication Human I5674_Q5952dup c.17020-?_17856+?dup 1
Missense Human I3325T 11
Missense Human S3339N 11
Nonsense Human R800X c.13433G>T 11
Nonsense Human R1891X c.5671A>T Exon 28 1
Nonsense Human E2103X Homozygous mutation 11
Nonsense Human R2286X 11
Nonsense Human Q2301X 6901C>T 11,27
Nonsense Human L2334X c.7001T>G Exon 32 1
Nonsense Human E4321X 3
Nonsense Human R4802X 11
Nonsense Human R5688X c.17062C>T Exon 79 1
Splice site Human c.9623 + 1G>A Intron 44 11
Clinically-Relevant Mutations and Pathophysiology Comments
Other mutations in humans that are probably pathogenic are: D1929N, H3399P, R4707Y [3].
Biologically Significant Variants
Type:  Frameshift mutation
Species:  Mouse
Description:  A single base pair deletion results in a frameshift and premature stop codon, leading to a truncated protein. This mutation is associated with audiogenic seizures.
Amino acid change:  V2250*
Nucleotide change:  7009delG
References:  24
Type:  Splice variant
Species:  Human
Description:  Membrane-membrane adhesion
Amino acids:  1967
Nucleotide accession: 
Protein accession: 
References:  15,21
Type:  Full length transcript product
Species:  Human
Description:  Membrane-membrane adhesion
Amino acids:  6306
Nucleotide accession: 
Protein accession: 
References:  15
Type:  Splice variant
Species:  Human
Description:  Biological effect unspecified
Amino acids:  2306
References:  15
Type:  Full length translation product
Species:  Mouse
Description:  Membrane-membrane adhesion
Amino acids:  6298
Nucleotide accession: 
Protein accession: 
References:  12,14-15,18,29
Biologically Significant Variant Comments
Several isoforms of Adgrv1 were identified [17]: Vlgr1a, b, c, d, e (recently also f-o were postulated) and MASS1.1, MASS1.2, MASS1.3. The Vlgr1a isoform is presumably restricted to humans. The antibodies used to study Adgrv1 expression are usually not isoform specific and only limited information is available by RT-PCR experiments differentiating between isoforms. Therefore, the biological significance of single isoforms remains to be elucidated.
General Comments
ADGRV1 (adhesion G protein-coupled receptor V1, formerly known as VLGR: very large G protein coupled receptor 1 and GPR98) is an orphan receptor belonging to Family IX Adhesion-GPCRs [2]. The full-length isoform VLGR1b is by far the largest GPCR with a molecular weight of ~700 kDa. Its extracellular domain contains 35 CalX-beta motifs, which are homologous to the calcium binding domains found in Na+/Ca2+ exchangers. Further extracellular domains are the LamG/TspN/PTX domain and the EAR domain that is possibly associated with epilepsy. The PDZ binding motif, located at the extreme carboxy-terminus of VLGR1b, mediates the interaction with intracellular PDZ domain-containing proteins, e.g. the two scaffold proteins whirlin and harmonin. Mutations in the ADGRV1 gene are causative for the human Usher syndrome (USH) type 2. USH is the most common form of combined hereditary deaf-blindness. It is an autosomal recessive disorder characterized by retinal dystophy (retinitis pigmentosa) and hearing loss, which can be associated with vestibular dysfunctions. ADGRV1 is expressed in most adult tissues, with the highest expression found in the developing nervous system and in tissues affected in USH patients, namely the inner ear and neuronal retina. In the inner ear VLGR1b is an essential component of the ankle links, which are important for the proper development of the mechano-sensitive hair bundles of auditory hair cells. In photoreceptor cells VLGR1b forms fibrous structures linking the membranes of the apical inner segment and the connecting cilium. It was also identified as an essential component of the periciliary USH protein network, crucial for cargo transport to the photoreceptor cilium. In both types of sensory cells VLGR1b is additionally expressed in the synaptic region, where it is present in the post-synaptic terminals.

References

Show »

1. Besnard T, Vaché C, Baux D, Larrieu L, Abadie C, Blanchet C, Odent S, Blanchet P, Calvas P, Hamel C et al.. (2012) Non-USH2A mutations in USH2 patients. Hum. Mutat., 33 (3): 504-10. [PMID:22147658]

2. Bjarnadóttir TK, Fredriksson R, Höglund PJ, Gloriam DE, Lagerström MC, Schiöth HB. (2004) The human and mouse repertoire of the adhesion family of G-protein-coupled receptors. Genomics, 84: 23-33. [PMID:15203201]

3. Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine M, Feldmann D et al.. (2011) Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis, 6: 21. [PMID:21569298]

4. Carroll N, Hughes L, McEntee G, Parle-McDermott A. (2012) Investigation of the molecular response to folate metabolism inhibition. J. Nutr. Biochem., 23 (11): 1531-6. [PMID:22402366]

5. Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ. (2009) GPR98 mutations cause Usher syndrome type 2 in males. J. Med. Genet., 46 (4): 277-80. [PMID:19357117]

6. Goodyear R, Richardson G. (1999) The ankle-link antigen: an epitope sensitive to calcium chelation associated with the hair-cell surface and the calycal processes of photoreceptors. J. Neurosci., 19 (10): 3761-72. [PMID:10234008]

7. Goodyear RJ, Richardson GP. (2003) A novel antigen sensitive to calcium chelation that is associated with the tip links and kinocilial links of sensory hair bundles. J. Neurosci., 23 (12): 4878-87. [PMID:12832510]

8. Hilgert N, Kahrizi K, Dieltjens N, Bazazzadegan N, Najmabadi H, Smith RJ, Van Camp G. (2009) A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family. J. Med. Genet., 46 (4): 272-6. [PMID:19357116]

9. Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O. (1998) Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res, 5: 169-176. [PMID:9734811]

10. Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS. (2008) Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum. Mol. Genet., 17 (15): 2405-15. [PMID:18463160]

11. Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP et al.. (2012) Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J. Med. Genet., 49 (1): 27-36. [PMID:22135276]

12. Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H et al.. (2008) A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum. Mol. Genet., 17 (1): 71-86. [PMID:17906286]

13. Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S. (2011) Phenotypes in defined genotypes including siblings with Usher syndrome. Ophthalmic Genet., 32 (2): 65-74. [PMID:21174530]

14. McGee J, Goodyear RJ, McMillan DR, Stauffer EA, Holt JR, Locke KG, Birch DG, Legan PK, White PC, Walsh EJ et al.. (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. J. Neurosci., 26 (24): 6543-53. [PMID:16775142]

15. McMillan DR, Kayes-Wandover KM, Richardson JA, White PC. (2002) Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system. J Biol Chem, 277: 785-792. [PMID:11606593]

16. McMillan DR, White PC. (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. Mol. Cell. Neurosci., 26 (2): 322-9. [PMID:15207856]

17. McMillan DR, White PC. (2010) Studies on the very large G protein-coupled receptor: from initial discovery to determining its role in sensorineural deafness in higher animals. Adv. Exp. Med. Biol., 706: 76-86. [PMID:21618827]

18. Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP et al.. (2007) Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J. Neurosci., 27 (24): 6478-88. [PMID:17567809]

19. Nakayama J, Fu YH, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptácek LJ. (2002) A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol, 52: 654-657. [PMID:12402266]

20. Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, Aoki T, Maki T, Kikuchi M, Migita T et al.. (2000) Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum. Mol. Genet., 9 (1): 87-91. [PMID:10587582]

21. Nikkila H, McMillan DR, Nunez BS, Pascoe L, Curnow KM, White PC. (2000) Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain. Mol Endocrinol, 14: 1351-1364. [PMID:10976914]

22. Reiners J, van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, Overlack N, Roepman R, Knipper M, Kremer H et al.. (2005) Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum. Mol. Genet., 14 (24): 3933-43. [PMID:16301216]

23. Sahly I, Dufour E, Schietroma C, Michel V, Bahloul A, Perfettini I, Pepermans E, Estivalet A, Carette D, Aghaie A et al.. (2012) Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice. J. Cell Biol., 199 (2): 381-99. [PMID:23045546]

24. Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptácek LJ. (2001) A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron, 31: 537-544. [PMID:11545713]

25. Urano T, Shiraki M, Yagi H, Ito M, Sasaki N, Sato M, Ouchi Y, Inoue S. (2012) GPR98/Gpr98 gene is involved in the regulation of human and mouse bone mineral density. J. Clin. Endocrinol. Metab., 97 (4): E565-74. [PMID:22419726]

26. van Wijk E, van der Zwaag B, Peters T, Zimmermann U, Te Brinke H, Kersten FF, Märker T, Aller E, Hoefsloot LH, Cremers CW et al.. (2006) The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum. Mol. Genet., 15 (5): 751-65. [PMID:16434480]

27. Weston MD, Luijendijk MW, Humphrey KD, Möller C, Kimberling WJ. (2004) Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet, 74: 357-366. [PMID:14740321]

28. Yagi H, Takamura Y, Yoneda T, Konno D, Akagi Y, Yoshida K, Sato M. (2005) Vlgr1 knockout mice show audiogenic seizure susceptibility. J. Neurochem., 92 (1): 191-202. [PMID:15606908]

29. Yagi H, Tokano H, Maeda M, Takabayashi T, Nagano T, Kiyama H, Fujieda S, Kitamura K, Sato M. (2007) Vlgr1 is required for proper stereocilia maturation of cochlear hair cells. Genes Cells, 12 (2): 235-50. [PMID:17295842]

30. Yang J, Liu X, Zhao Y, Adamian M, Pawlyk B, Sun X, McMillan DR, Liberman MC, Li T. (2010) Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet., 6 (5): e1000955. [PMID:20502675]

31. Zallocchi M, Delimont D, Meehan DT, Cosgrove D. (2012) Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells. J. Neurosci., 32 (40): 13841-59. [PMID:23035094]

32. Zallocchi M, Meehan DT, Delimont D, Rutledge J, Gratton MA, Flannery J, Cosgrove D. (2012) Role for a novel Usher protein complex in hair cell synaptic maturation. PLoS ONE, 7 (2): e30573. [PMID:22363448]

33. Zou J, Luo L, Shen Z, Chiodo VA, Ambati BK, Hauswirth WW, Yang J. (2011) Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. Invest. Ophthalmol. Vis. Sci., 52 (5): 2343-51. [PMID:21212183]

Contributors

Show »

How to cite this page

Barbara Knapp, Uwe Wolfrum.
Adhesion Class GPCRs: ADGRV1. Last modified on 03/03/2017. Accessed on 26/03/2019. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=189.