Gene
ehd1a
- ID
- ZDB-GENE-040426-2518
- Name
- EH-domain containing 1a
- Symbol
- ehd1a Nomenclature History
- Previous Names
-
- zgc:77049
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable ATP binding activity; GTP binding activity; and calcium ion binding activity. Involved in cilium assembly. Acts upstream of or within renal absorption. 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 several structures, including heart; liver; nervous system; otic vesicle; and pleuroperitoneal region. Orthologous to human EHD1 (EH domain containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- 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 |
|---|---|---|---|---|---|
| la012618Tg | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-ehd1a | N/A | Lu et al., 2015 |
| MO2-ehd1a | N/A | Issler et al., 2022 |
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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:Q6NY81 | InterPro | 533 |
Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-114C17 | ZFIN Curated Data | |
| Contained in | BAC | CH211-168F7 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:77049 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_212874 (1) | 3389 nt | ||
| Genomic | GenBank:CR847510 (2) | 147560 nt | ||
| Polypeptide | UniProtKB:Q6NY81 (1) | 533 aa |
- 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
- 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
- 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
- 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
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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