DNM1 wt Allele

Preferred Label : DNM1 wt Allele;

NCIt synonyms : Dynamin 1 wt Allele; EIEE31; DEE31; DNM;

NCIt definition : Human DNM1 wild-type allele is located in the vicinity of 9q34.11 and is approximately 64 kb in length. This allele, which encodes dynamin-1 protein, is involved in vesicular trafficking and receptor-mediated endocytosis. Mutation of the gene is associated with developmental and epileptic encephalopathy 31.;

NCI Metathesaurus CUI : CL1799273;

GenBank Accession Number : L07807;

Details

Origin ID

C190858;

UMLS CUI

C5780979;

OMIM relation
- Dynamin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.11 [NCIt concept]
gene_is_element_in_pathway
- Bacterial Invasion of Epithelial Cell Pathway [NCIt concept]
- CXCR3-Mediated Signaling Pathway [NCIt concept]
- CXCR4-Mediated Signaling Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- Ephrin B Forward Signaling Pathway [NCIt concept]
- Ephrin B Reverse Signaling Pathway [NCIt concept]
- Internalization Pathway for Epidermal Growth Factor Receptor [NCIt concept]
- Neurotrophic Factor-Mediated NTRK1 Signaling Pathway [NCIt concept]
- Thromboxane A2 Receptor Family Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Progression [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Endocytotic Process [NCIt concept]
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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