DNM1

This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Dynamin 1

Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis.

Dynamin family protein polymerization involved in mitochondrial fission Source: GO_Central
Endocytosis Source: BHF-UCL
Endosome organization Source: BHF-UCL
G protein-coupled receptor internalization Source: Ensembl
Membrane fusion Source: GO_Central
Mitochondrial fission Source: GO_Central
Modulation of chemical synaptic transmission Source: Ensembl
Positive regulation of synaptic vesicle endocytosis Source: Ensembl
Postsynaptic neurotransmitter receptor internalization Source: GO_Central
Receptor internalization Source: GO_Central
Receptor-mediated endocytosis Source: UniProtKB
Regulation of synapse structure or activity Source: GO_Central
Response to amyloid-beta Source: Ensembl
Synaptic vesicle budding from presynaptic endocytic zone membrane Source: GO_Central
Toxin transport Source: Ensembl

Cytoskeleton; Cytoplasm. Microtubule-associated.

Developmental and epileptic encephalopathy 31 (DEE31):
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.