Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alsoKnownAs |
gptkb:KCNH1
gptkb:Kv10.1 |
| gptkbp:associatedWith |
gptkb:Temple-Baraitser_syndrome
epilepsy Zimmermann-Laband syndrome |
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodedBy |
KCNH1 gene
|
| gptkbp:expressedIn |
gptkb:testis
brain other tissues |
| gptkbp:foundIn |
gptkb:human
gptkb:mouse right |
| gptkbp:function |
potassium ion transport
|
| https://www.w3.org/2000/01/rdf-schema#label |
EAG1
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_1q32.2
|
| gptkbp:location |
gptkb:cell_membrane
|
| gptkbp:memberOf |
voltage-gated potassium channel family
EAG subfamily |
| gptkbp:mutationAssociatedWith |
intellectual disability
developmental delay |
| gptkbp:regulates |
cell proliferation
neuronal excitability |
| gptkbp:structure |
six transmembrane domains
|
| gptkbp:UniProtID |
Q9UQK1
|
| gptkbp:bfsParent |
gptkb:KCNH1
|
| gptkbp:bfsLayer |
8
|