Gene
dvl1b
- ID
- ZDB-GENE-071004-1
- Name
- dishevelled segment polarity protein 1b
- Symbol
- dvl1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable frizzled binding activity. Predicted to be involved in canonical Wnt signaling pathway. Predicted to act upstream of or within Wnt signaling pathway and intracellular signal transduction. Predicted to be active in cytosol. Is expressed in vertebral column. Human ortholog(s) of this gene implicated in DiGeorge syndrome and autosomal dominant Robinow syndrome 2. Orthologous to several human genes including DVL1 (dishevelled segment polarity protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Costa et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la017774Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa17495 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sdu31 | Allele with one deletion | Exon 1 | Unknown | TALEN |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-dvl1b | N/A | (3) |
| MO2-dvl1b | N/A | Yang et al., 2011 |
| TALEN1-dvl1b | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant Robinow syndrome 2 | Alliance | Robinow syndrome, autosomal dominant 2 | 616331 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DEP domain | Dishevelled C-terminal | Dishevelled family | Dishevelled protein domain | Dishevelled-related protein | DIX domain | DIX domain superfamily | PDZ domain | PDZ superfamily | Ubiquitin-like domain superfamily | Winged helix DNA-binding domain superfamily | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2BGK1
|
742 | ||||||||||||
|
UniProtKB:A0A2R8QN77
|
707 | ||||||||||||
|
UniProtKB:A0A8M2BGP3
|
642 | ||||||||||||
|
UniProtKB:F1QNA4
|
716 | ||||||||||||
|
UniProtKB:A0A8M2BGL3
|
580 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-15P9 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:198188 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001044917 (1) | 2124 nt | ||
| Genomic | GenBank:BX001056 (1) | 146959 nt | ||
| Polypeptide | UniProtKB:A0A8M2BGK1 (1) | 742 aa |
- Costa, R., Bellesso, S., Lualdi, S., Manzoli, R., Pistorio, V., Filocamo, M., Moro, E. (2020) A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models. Human molecular genetics. 29:285
- Xing, Y.Y., Cheng, X.N., Li, Y.L., Zhang, C., Saquet, A., Liu, Y.Y., Shao, M., Shi, D.L. (2018) Mutational analysis of dishevelled genes in zebrafish reveals distinct functions in embryonic patterning and gastrulation cell movements. PLoS Genetics. 14:e1007551
- Kimura, T., Takehana, Y., Naruse, K. (2017) pnp4a Is the Causal Gene of the Medaka Iridophore Mutant guanineless.. G3 (Bethesda). 7(4):1357-1363
- 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
- Kizil, C., Küchler, B., Yan, J.J., Özhan, G., Moro, E., Argenton, F., Brand, M., Weidinger, G., Antos, C.L. (2014) Simplet/Fam53b is required for Wnt signal transduction by regulating β-catenin nuclear localization. Development (Cambridge, England). 141:3529-39
- Shimizu, N., Ishitani, S., Sato, A., Shibuya, H., Ishitani, T. (2014) Hipk2 and PP1c Cooperate to Maintain Dvl Protein Levels Required for Wnt Signal Transduction. Cell Reports. 8(5):1391-404
- 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
- Lagman, D., Sundström, G., Daza, D.O., Abalo, X.M., and Larhammar, D. (2012) Expansion of transducin subunit gene families in early vertebrate tetraploidizations. Genomics. 100(4):203-211
- Mahuzier, A., Gaudé, H.M., Grampa, V., Anselme, I., Silbermann, F., Leroux-Berger, M., Delacour, D., Ezan, J., Montcouquiol, M., Saunier, S., Schneider-Maunoury, S., and Vesque, C. (2012) Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. The Journal of cell biology. 198(5):927-940
- Lu, F.I., Thisse, C., and Thisse, B. (2011) Identification and mechanism of regulation of the zebrafish dorsal determinant. Proceedings of the National Academy of Sciences of the United States of America. 108(38):15876-80
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