Gene
dnmbp
- ID
- ZDB-GENE-101026-2
- Name
- dynamin binding protein
- Symbol
- dnmbp Nomenclature History
- Previous Names
-
- tuba (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Acts upstream of or within cilium assembly and kidney development. Predicted to be located in Golgi apparatus; cell-cell junction; and presynapse. Predicted to be active in cytoplasm. Is expressed in brain; eye; neuromast; pronephric duct; and pronephric tubule. Human ortholog(s) of this gene implicated in cataract 48. Orthologous to human DNMBP (dynamin binding protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Baek et al., 2016
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Baek et al., 2016
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa13284 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17521 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22138 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22139 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35330 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-dnmbp | N/A | Baek et al., 2016 |
| MO2-dnmbp | N/A | Baek et al., 2016 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cataract 48 | Alliance | Cataract 48 | 618415 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001331 | Guanine-nucleotide dissociation stimulator, CDC24, conserved site |
| Domain | IPR000219 | Dbl homology domain |
| Domain | IPR001452 | SH3 domain |
| Domain | IPR004148 | BAR domain |
| Domain | IPR035817 | Dynamin-binding protein, first N-terminal SH3 domain |
| Domain | IPR035819 | Dynamin-binding protein, third N-terminal SH3 domain |
| Domain | IPR035820 | Dynamin-binding protein, first C-terminal SH3 domain |
| Family | IPR051492 | Dynamin-binding and Rho GEF |
| Homologous_superfamily | IPR027267 | AH/BAR domain superfamily |
| Homologous_superfamily | IPR035899 | Dbl homology (DH) domain superfamily |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | AH/BAR domain superfamily | BAR domain | Dbl homology (DH) domain superfamily | Dbl homology domain | Dynamin-binding and Rho GEF | Dynamin-binding protein, first C-terminal SH3 domain | Dynamin-binding protein, first N-terminal SH3 domain | Dynamin-binding protein, third N-terminal SH3 domain | Guanine-nucleotide dissociation stimulator, CDC24, conserved site | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:E7F1U2 | InterPro | 1673 | |||||||||||
| UniProtKB:A0A8M2B371 | InterPro | 1392 | |||||||||||
| UniProtKB:A0A8M3AYH8 | InterPro | 1589 | |||||||||||
| UniProtKB:A0A8M2B2P0 | InterPro | 1667 | |||||||||||
| UniProtKB:A0AB13AAA3 | InterPro | 1673 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-134H7 | ZFIN Curated Data | |
| Encodes | EST | wz10611 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001424046 (1) | 7715 nt | ||
| Genomic | GenBank:CR352342 (1) | 186937 nt | ||
| Polypeptide | UniProtKB:A0AB13AAA3 (1) | 1673 aa |
- Baek, J.I., Kwon, S.H., Zuo, X., Kwon, S.Y., Kim, S.H., Lipschutz, J.H. (2016) Dynamin Binding Protein (Tuba) deficiency inhibits ciliogenesis and nephrogenesis in vitro and in vivo. The Journal of biological chemistry. 291(16):8632-43
- 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
- Geisler, R., Rauch, G.J., Baier, H., van Bebber, F., Brobeta, L., Dekens, M.P., Finger, K., Fricke, C., Gates, M.A., Geiger, H., Geiger-Rudolph, S., Gilmour, D., Glaser, S., Gnugge, L., Habeck, H., Hingst, K., Holley, S., Keenan, J., Kirn, A., Knaut, H., Lashkari, D., Maderspacher, F., Martyn, U., Neuhauss, S., Neumann, C., Nicolson, T., Pelegri, F., Ray, R., Rick, J.M., Roehl, H., Roeser, T., Schauerte, H.E., Schier, A.F., Schönberger, U., Schönthaler, H.-B., Schulte-Merker, S., Seydler, C., Talbot, W.S., Weiler, C., Nüsslein-Volhard, C., and Haffter, P. (1999) A radiation hybrid map of the zebrafish genome. Nature Genetics. 23(1):86-89
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