External Ids for DNM1 Gene
Previous HGNC Symbols for DNM1 Gene
Previous GeneCards Identifiers for DNM1 Gene
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]
GeneCards Summary for DNM1 Gene
DNM1 (Dynamin 1) is a Protein Coding gene. Diseases associated with DNM1 include Epileptic Encephalopathy, Early Infantile, 31 and Lennox-Gastaut Syndrome. Among its related pathways are Gap junction trafficking and Primary Focal Segmental Glomerulosclerosis FSGS. GO annotations related to this gene include poly(A) RNA binding and GTP binding. An important paralog of this gene is DNM3.
UniProtKB/Swiss-Prot for DNM1 Gene
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.
GTPases are a group of enzymes that catalyze hydrolysis of the gamma phosphate bond in guanine triphosphate (GTP) to form guanine diphosphate (GDP). Mg2+ ions are essential for catalytic activity. GTPases, often coupled to G proteins, are essential in signal transduction.