Gene
ehd3
- ID
- ZDB-GENE-041014-352
- Name
- EH-domain containing 3
- Symbol
- ehd3 Nomenclature History
- Previous Names
-
- si:ch211-147c1.2
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity; GTP binding activity; and calcium ion binding activity. Involved in cilium assembly. Predicted to be located in endosome and membrane. Predicted to be active in cytoplasmic vesicle; perinuclear region of cytoplasm; and plasma membrane. Is expressed in heart; liver; muscle; nervous system; and pleuroperitoneal region. Orthologous to human EHD3 (EH domain containing 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Lu et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-ehd3 | N/A | Lu et al., 2015 |
| MO2-ehd3 | N/A | Gieger et al., 2011 |
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Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR018247 | EF-Hand 1, calcium-binding site |
| Domain | IPR000261 | EH domain |
| Domain | IPR002048 | EF-hand domain |
| Domain | IPR030381 | Dynamin-type guanine nucleotide-binding (G) domain |
| Domain | IPR031692 | EH domain-containing protein, N-terminal |
| Domain | IPR040990 | Domain of unknown function DUF5600 |
| Domain | IPR045063 | Dynamin, N-terminal |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
| Protein | Additional Resources | Length | Domain of unknown function DUF5600 | Dynamin, N-terminal | Dynamin-type guanine nucleotide-binding (G) domain | EF-Hand 1, calcium-binding site | EF-hand domain | EF-hand domain pair | EH domain | EH domain-containing protein, N-terminal | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q5TYP7 | InterPro | 535 | |||||||||
| UniProtKB:A0AB32TCE9 | InterPro | 551 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-147C1 | ZFIN Curated Data | |
| Contained in | BAC | DKEYP-59A8 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001045004 (1) | 1608 nt | ||
| Genomic | GenBank:BX897693 (1) | 173818 nt | ||
| Polypeptide | UniProtKB:A0AB32TCE9 (1) | 551 aa |
- Xie, B., Liang, J., Jiang, J., Zeng, T., Liu, L., Xie, D., Zhu, G., Xiong, L., Zhang, K., Liu, D., Gong, J., Chen, X., Lai, R., Xie, H. (2024) Zebrafish myo7aa affects congenital hearing by regulating Rho-GTPase signaling. Frontiers in molecular neuroscience. 17:14051091405109
- Issler, N., Afonso, S., Weissman, I., Jordan, K., Cebrian-Serrano, A., Meindl, K., Dahlke, E., Tziridis, K., Yan, G., Robles-López, J.M., Tabernero, L., Patel, V., Kesselheim, A., Klootwijk, E.D., Stanescu, H.C., Dumitriu, S., Iancu, D., Tekman, M., Mozere, M., Jaureguiberry, G., Outtandy, P., Russell, C., Forst, A.L., Sterner, C., Heinl, E.S., Othmen, H., Tegtmeier, I., Reichold, M., Schiessl, I.M., Limm, K., Oefner, P., Witzgall, R., Fu, L., Theilig, F., Schilling, A., Shuster Biton, E., Kalfon, L., Fedida, A., Arnon-Sheleg, E., Ben Izhak, O., Magen, D., Anikster, Y., Schulze, H., Ziegler, C., Lowe, M., Davies, B., Böckenhauer, D., Kleta, R., Falik Zaccai, T.C., Warth, R. (2022) A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. Journal of the American Society of Nephrology : JASN. 33(4):732-745
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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
- Lu, Q., Insinna, C., Ott, C., Stauffer, J., Pintado, P.A., Rahajeng, J., Baxa, U., Walia, V., Cuenca, A., Hwang, Y.S., Daar, I.O., Lopes, S., Lippincott-Schwartz, J., Jackson, P.K., Caplan, S., Westlake, C.J. (2015) Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation. Nature cell biology. 17:228-40
- Gieger, C., Radhakrishnan, A., Cvejic, A., Tang, W., Porcu, E., Pistis, G., Serbanovic-Canic, J., Elling, U., Goodall, A.H., Labrune, Y., Lopez, L.M., Mägi, R., Meacham, S., Okada, Y., Pirastu, N., Sorice, R., Teumer, A., Voss, K., Zhang, W., Ramirez-Solis, R., Bis, J.C., Ellinghaus, D., Gögele, M., Hottenga, J.J., Langenberg, C., Kovacs, P., O'Reilly, P.F., Shin, S.Y., Esko, T., Hartiala, J., Kanoni, S., Murgia, F., Parsa, A., Stephens, J., van der Harst, P., Ellen van der Schoot, C., Allayee, H., Attwood, A., Balkau, B., Bastardot, F., Basu, S., Baumeister, S.E., Biino, G., Bomba, L., Bonnefond, A., Cambien, F., Chambers, J.C., Cucca, F., D'Adamo, P., Davies, G., de Boer, R.A., de Geus, E.J., Döring, A., Elliott, P., Erdmann, J., Evans, D.M., Falchi, M., Feng, W., Folsom, A.R., Frazer, I.H., Gibson, Q.D., Glazer, N.L., Hammond, C., Hartikainen, A.L., Heckbert, S.R., Hengstenberg, C., Hersch, M., Illig, T., Loos, R.J., Jolley, J., Khaw, K.T., Kühnel, B., Kyrtsonis, M.C., Lagou, V., Lloyd-Jones, H., Lumley, T., Mangino, M., Maschio, A., Mateo Leach, I., McKnight, B., Memari, Y., Mitchell, B.D., Montgomery, G.W., Nakamura, Y., Nauck, M., Navis, G., Nöthlings, U., Nolte, I.M., Porteous, D.J., Pouta, A., Pramstaller, P.P., Pullat, J., Ring, S.M., Rotter, J.I., Ruggiero, D., Ruokonen, A., Sala, C., Samani, N.J., Sambrook, J., Schlessinger, D., Schreiber, S., Schunkert, H., Scott, J., Smith, N.L., Snieder, H., Starr, J.M., Stumvoll, M., Takahashi, A., Tang, W.H., Taylor, K., Tenesa, A., Lay Thein, S., Tönjes, A., Uda, M., Ulivi, S., van Veldhuisen, D.J., Visscher, P.M., Völker, U., Wichmann, H.E., Wiggins, K.L., Willemsen, G., Yang, T.P., Hua Zhao, J., Zitting, P., Bradley, J.R., Dedoussis, G.V., Gasparini, P., Hazen, S.L., Metspalu, A., Pirastu, M., Shuldiner, A.R., Joost van Pelt, L., Zwaginga, J.J., Boomsma, D.I., Deary, I.J., Franke, A., Froguel, P., Ganesh, S.K., Jarvelin, M.R., Martin, N.G., Meisinger, C., Psaty, B.M., Spector, T.D., Wareham, N.J., Akkerman, J.W., Ciullo, M., Deloukas, P., Greinacher, A., Jupe, S., Kamatani, N., Khadake, J., Kooner, J.S., Penninger, J., Prokopenko, I., Stemple, D., Toniolo, D., Wernisch, L., Sanna, S., Hicks, A.A., Rendon, A., Ferreira, M.A., Ouwehand, W.H., Soranzo, N. (2011) New gene functions in megakaryopoiesis and platelet formation. Nature. 480:201-8
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