Gene
dnm1a
- ID
- ZDB-GENE-081104-27
- Name
- dynamin 1a
- Symbol
- dnm1a Nomenclature History
- Previous Names
-
- si:dkey-246l19.2
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable GTPase activity and microtubule binding activity. Acts upstream of or within neuron projection morphogenesis and regulation of skeletal muscle fiber development. Predicted to be active in several cellular components, including microtubule; plasma membrane; and synapse. Is expressed in liver; muscle; nervous system; and somite. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 31A and developmental and epileptic encephalopathy 31B. Orthologous to human DNM1 (dynamin 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Bragato et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-dnm1a | N/A | Bragato et al., 2023 |
MO2-dnm1a | N/A | Bragato et al., 2023 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
developmental and epileptic encephalopathy 31A | Alliance | Developmental and epileptic encephalopathy 31A, autosomal dominant | 616346 |
developmental and epileptic encephalopathy 31B | Alliance | Developmental and epileptic encephalopathy 31B, autosomal recessive | 620352 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR019762 | Dynamin, GTPase region, conserved site |
Domain | IPR000375 | Dynamin stalk domain |
Domain | IPR001401 | Dynamin, GTPase domain |
Domain | IPR001849 | Pleckstrin homology domain |
Domain | IPR003130 | Dynamin GTPase effector |
Domain | IPR020850 | GTPase effector domain |
Domain | IPR030381 | Dynamin-type guanine nucleotide-binding (G) domain |
Domain | IPR045063 | Dynamin, N-terminal |
Family | IPR022812 | Dynamin |
Homologous_superfamily | IPR011993 | PH-like domain superfamily |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
Protein | Additional Resources | Length | Dynamin | Dynamin, GTPase domain | Dynamin GTPase effector | Dynamin, GTPase region, conserved site | Dynamin, N-terminal | Dynamin stalk domain | Dynamin-type guanine nucleotide-binding (G) domain | GTPase effector domain | PH-like domain superfamily | Pleckstrin homology domain | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9PJL9 | InterPro | 854 | |||||||||||
UniProtKB:A0A8M9PX15 | InterPro | 854 | |||||||||||
UniProtKB:A0A8M2BG30 | InterPro | 841 | |||||||||||
UniProtKB:A0A8M9QDH5 | InterPro | 849 | |||||||||||
UniProtKB:E4VNZ2 | InterPro | 843 | |||||||||||
UniProtKB:A0A8M3B9A3 | InterPro | 845 | |||||||||||
UniProtKB:A0A8M9Q2T8 | InterPro | 852 | |||||||||||
UniProtKB:A0AB32TT15 | InterPro | 847 | |||||||||||
UniProtKB:A0AB32TU33 | InterPro | 844 | |||||||||||
UniProtKB:A0AB32TUU2 | InterPro | 843 | |||||||||||
UniProtKB:A0AB32TUZ5 | InterPro | 847 | |||||||||||
UniProtKB:A0AB32TV31 | InterPro | 852 |
Interactions and Pathways
No data available
Plasmids
No data available
Construct | Regulatory Region | Coding Sequence | Species | Tg Lines | Citations |
---|---|---|---|---|---|
Tg(14xUAS-E1B:dnm1a,Xla.Cryg:EGFP) |
|
| 1 | Bragato et al., 2023 |
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Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH73-213N7 | ZFIN Curated Data | |
Contained in | BAC | DKEY-246L19 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001245965 (1) | |||
Genomic | GenBank:CU138550 (1) | 138123 nt | ||
Polypeptide | UniProtKB:A0A8M9PJL9 (1) | 854 aa |
- Grepper, D., Tabasso, C., Zanou, N., Aguettaz, A.K.F., Castro-Sepulveda, M., Ziegler, D.V., Lagarrigue, S., Arribat, Y., Martinotti, A., Ebrahimi, A., Daraspe, J., Fajas, L., Amati, F. (2024) BCL2L13 at endoplasmic reticulum-mitochondria contact sites regulates calcium homeostasis to maintain skeletal muscle function. iScience. 27:110510110510
- Bragato, C., Pistocchi, A., Bellipanni, G., Confalonieri, S., Balciunie, J., Monastra, F.M., Carra, S., Vitale, G., Mantecca, P., Cotelli, F., Gaudenzi, G. (2023) Zebrafish dnm1a gene plays a role in the formation of axons and synapses in the nervous tissue. Journal of neuroscience research. 101(8):1345-1359
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Park, K.H., Gooz, M., Ye, Z.W., Zhang, J., Beeson, G.C., Rockey, D.C., Kim, S.H. (2021) Flavin Adenine Dinucleotide Depletion Caused by electron transfer flavoprotein subunit alpha Haploinsufficiency Leads to Hepatic Steatosis and Injury in Zebrafish. Hepatology communications. 5:976-991
- Arribat, Y., Grepper, D., Lagarrigue, S., Richard, J., Gachet, M., Gut, P., Amati, F. (2019) Mitochondria in Embryogenesis: An Organellogenesis Perspective. Frontiers in cell and developmental biology. 7:282
- Zhao, C., Wang, M., Jia, Z., Li, E., Zhao, X., Li, F., Lin, R. (2019) Similar hepatotoxicity response induced by Rhizoma Paridis in zebrafish larvae, cell and rat. Journal of ethnopharmacology. 250:112440
- Pan, Y.X., Luo, Z., Zhuo, M.Q., Wei, C.C., Chen, G.H., Song, Y.F. (2018) Oxidative stress and mitochondrial dysfunction mediated Cd-induced hepatic lipid accumulation in zebrafish Danio rerio. Aquatic toxicology (Amsterdam, Netherlands). 199:12-20
- 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
- Schiffer, M., Teng, B., Gu, C., Shchedrina, V.A., Kasaikina, M., Pham, V.A., Hanke, N., Rong, S., Gueler, F., Schroder, P., Tossidou, I., Park, J.K., Staggs, L., Haller, H., Erschow, S., Hilfiker-Kleiner, D., Wei, C., Chen, C., Tardi, N., Hakroush, S., Selig, M.K., Vasilyev, A., Merscher, S., Reiser, J., Sever, S. (2015) Pharmacological targeting of actin-dependent dynamin oligomerization ameliorates chronic kidney disease in diverse animal models. Nature medicine. 21:601-9
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