Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
DEE31
DYN1 |
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
Epilepsy
developmental delay |
| gptkbp:discoveredIn |
1994
|
| gptkbp:encodes |
dynamin-1 protein
|
| gptkbp:Entrez_Gene_ID |
1759
|
| gptkbp:expressedIn |
brain
|
| gptkbp:fullName |
gptkb:dynamin_1
|
| gptkbp:function |
GTPase activity
synaptic vesicle endocytosis |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
2972
|
| https://www.w3.org/2000/01/rdf-schema#label |
DNM1 gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
9q34.11 |
| gptkbp:mutationAssociatedWith |
intellectual disability
seizures |
| gptkbp:OMIM |
602377
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Dnm1
|
| gptkbp:pathway |
gptkb:synaptic_vesicle_cycle
endocytosis |
| gptkbp:product |
dynamin-1
|
| gptkbp:UniProtID |
gptkb:Q05193
|
| gptkbp:bfsParent |
gptkb:Dynamin
|
| gptkbp:bfsLayer |
6
|