Dynamin possesses uniquemechanochemical properties used to tubulate and severmembranes, and is involved in clathrin-mediated endocytosis and othervesicular trafficking processes. Actin and othercytoskeletal proteins act as binding partners for thedynamin, which can also self-assemble leading to stimulation ofGTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in thegenome, particularly onchromosomes Y and 15. Alternatively spliced transcript variants encoding differentisoforms have been described.[7]
De novo mutations in DNM1 have been associated with a severe form of childhood epilepsy called developmental and epileptic encephalopathy. Most pathogenic variants are missense variants, and have been shown to impairsynaptic vesicleendocytosis in a dominant negative manner.[8]
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^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
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^Newman-Smith ED, Shurland DL, van der Bliek AM (July 1997). "Assignment of the dynamin-1 gene (DNM1) to human chromosome 9q34 by fluorescence in situ hybridization and somatic cell hybrid analysis".Genomics.41 (2):286–9.doi:10.1006/geno.1996.4596.PMID9143509.
^Wunderlich L, Faragó A, Buday L (January 1999). "Characterization of interactions of Nck with Sos and dynamin".Cell. Signal.11 (1):25–9.doi:10.1016/s0898-6568(98)00027-8.PMID10206341.
^Modregger J, Ritter B, Witter B, Paulsson M, Plomann M (December 2000). "All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis".J. Cell Sci.113 (24):4511–21.doi:10.1242/jcs.113.24.4511.PMID11082044.
Timm D, Salim K, Gout I, et al. (1995). "Crystal structure of the pleckstrin homology domain from dynamin".Nat. Struct. Biol.1 (11):782–8.doi:10.1038/nsb1194-782.PMID7634088.S2CID1454909.
Ferguson KM, Lemmon MA, Schlessinger J, Sigler PB (1994). "Crystal structure at 2.2 A resolution of the pleckstrin homology domain from human dynamin".Cell.79 (2):199–209.doi:10.1016/0092-8674(94)90190-2.PMID7954789.S2CID33767806.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides".Gene.138 (1–2):171–4.doi:10.1016/0378-1119(94)90802-8.PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library".Gene.200 (1–2):149–56.doi:10.1016/S0378-1119(97)00411-3.PMID9373149.
1dyn: CRYSTAL STRUCTURE AT 2.2 ANGSTROMS RESOLUTION OF THE PLECKSTRIN HOMOLOGY DOMAIN FROM HUMAN DYNAMIN
2aka: Structure of the nucleotide-free myosin II motor domain from Dictyostelium discoideum fused to the GTPase domain of dynamin 1 from Rattus norvegicus
