Gene
adgrv1
- ID
- ZDB-GENE-040624-6
- Name
- adhesion G protein-coupled receptor V1
- Symbol
- adgrv1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable G protein-coupled receptor activity; G-protein alpha-subunit binding activity; and adenylate cyclase inhibitor activity. Acts upstream of or within eye photoreceptor cell development and visual perception. Predicted to be located in photoreceptor inner segment and stereocilium membrane. Predicted to be active in cytoplasm and stereocilium. Is expressed in integument; nervous system; and pleuroperitoneal region. Used to study retinitis pigmentosa. Human ortholog(s) of this gene implicated in Usher syndrome type 2C and familial febrile seizures 4. Orthologous to human ADGRV1 (adhesion G protein-coupled receptor V1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7139473 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Stemerdink et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la025128Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| rmc22 | Allele with one deletion | Exon 9 | Unknown | not specified | |
| sa941 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa1078 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa6062 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa10539 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14200 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14823 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa15969 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18129 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-adgrv1 | (2) | |
| MO1-adgrv1 | N/A | Ebermann et al., 2010 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial febrile seizures 4 | Alliance | ?Febrile seizures, familial, 4 | 604352 |
| Usher syndrome type 2C | Alliance | Usher syndrome, type 2C | 605472 |
| Usher syndrome type 2C | Alliance | Usher syndrome, type 2C, GPR98/PDZD7 digenic | 605472 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| retinitis pigmentosa | adgrv1rmc22/rmc22 (AB) | standard conditions | Stemerdink et al., 2023 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR000203 | GPS motif |
| Domain | IPR003609 | PAN/Apple domain |
| Domain | IPR003644 | Na-Ca exchanger/integrin-beta4 |
| Domain | IPR006558 | LamG-like jellyroll fold |
| Domain | IPR017981 | GPCR, family 2-like, 7TM |
| Family | IPR000832 | GPCR, family 2, secretin-like |
| Family | IPR026919 | Adhesion G-protein coupled receptor V1 |
| Homologous_superfamily | IPR013320 | Concanavalin A-like lectin/glucanase domain superfamily |
| Homologous_superfamily | IPR038081 | CalX-like domain superfamily |
| Homologous_superfamily | IPR046338 | GAIN domain superfamily |
| Repeat | IPR009039 | EAR |
Domain Details Per Protein
| Protein | Additional Resources | Length | Adhesion G-protein coupled receptor V1 | CalX-like domain superfamily | Concanavalin A-like lectin/glucanase domain superfamily | EAR | GAIN domain superfamily | GPCR, family 2-like, 7TM | GPCR, family 2, secretin-like | GPS motif | LamG-like jellyroll fold | Na-Ca exchanger/integrin-beta4 | PAN/Apple domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2BD08 | InterPro | 6201 | |||||||||||
| UniProtKB:Q6JAN0 | InterPro | 6199 | |||||||||||
| UniProtKB:F1QEZ1 | InterPro | 6198 | |||||||||||
| UniProtKB:A0A8M3ASR0 | InterPro | 6208 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
adgrv1-201
(1)
|
Ensembl | 19,174 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-adgrv1 | polyclonal | Rabbit |
|
3 | |||
| Ab2-adgrv1 | polyclonal | IgG | Rabbit |
|
Boster Biological
|
2 |
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-244B10 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-147L19 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-260H8 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7139473 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001001845 (1) | 19221 nt | ||
| Genomic | GenBank:CR407555 (2) | 156095 nt | ||
| Polypeptide | UniProtKB:A0A8M3ASR0 (1) | 6208 aa |
- Stemerdink, M., Broekman, S., Peters, T., Kremer, H., de Vrieze, E., van Wijk, E. (2023) Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology. Cells. 12(12):
- Toms, M., Toualbi, L., Almeida, P.V., Harbottle, R., Moosajee, M. (2023) Successful large gene augmentation of USH2A with non-viral episomal vectors. Molecular therapy : the journal of the American Society of Gene Therapy. 31(9):2755-2766
- Casey, M.A., Hill, J.T., Hoshijima, K., Bryan, C.D., Gribble, S.L., Brown, J.T., Chien, C.B., Yost, H.J., Kwan, K.M. (2021) Shutdown corner, a large deletion mutant isolated from a haploid mutagenesis screen in zebrafish. G3 (Bethesda). 12(3):
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Harty, B.L., Krishnan, A., Sanchez, N.E., Schiöth, H.B., Monk, K.R. (2015) Defining the gene repertoire and spatiotemporal expression profiles of adhesion G protein-coupled receptors in zebrafish. BMC Genomics. 16:62
- Blanco-Sánchez, B., Clément, A., Fierro, J., Washbourne, P., Westerfield, M. (2014) Complexes of Usher proteins preassemble at the endoplasmic reticulum and are required for trafficking and ER homeostasis. Disease models & mechanisms. 7:547-59
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- Ebermann, I., Phillips, J.B., Liebau, M.C., Koenekoop, R.K., Schermer, B., Lopez, I., Schäfer, E., Roux, A.F., Dafinger, C., Bernd, A., Zrenner, E., Claustres, M., Blanco, B., Nürnberg, G., Nürnberg, P., Ruland, R., Westerfield, M., Benzing, T., and Bolz, H.J. (2010) PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J. Clin. Invest.. 120(6):1812-1823
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- Gibert, Y., McMillan, D.R., Kayes-Wandover, K., Meyer, A., Begemann, G., and White, P.C. (2005) Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish. Gene. 353(2):200-206
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