DNM1 gene

dynamin 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Epileptic encephalopathy, early infantile, 31

From UniProt:

Epileptic encephalopathy, early infantile, 31 (EIEE31): A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. [MIM:616346]

Cytogenetic Location: 9q34.11, which is the long (q) arm of chromosome 9 at position 34.11

Molecular Location: base pairs 128,203,355 to 128,255,248 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q34.11, which is the long (q) arm of chromosome 9 at position 34.11
  • DNM
  • EIEE31