Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:encodes |
dynamin-1
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000106976
1759 |
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
GTPase activity
endocytosis synaptic vesicle recycling |
| gptkbp:HGNC_ID |
2972
|
| https://www.w3.org/2000/01/rdf-schema#label |
DNM1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:mutationAssociatedWith |
Epilepsy
developmental delay |
| gptkbp:OMIM |
602377
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Dnm1
|
| gptkbp:proteinFamily |
gptkb:dynamin_family
|
| gptkbp:subcellularLocation |
gptkb:cytoplasm
synapse |
| gptkbp:UniProtID |
gptkb:Q05193
|
| gptkbp:bfsParent |
gptkb:Dynamin_family
|
| gptkbp:bfsLayer |
7
|