|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:EAG1
gptkb:Kv10.1
|
|
gptkbp:associatedWith
|
gptkb:Temple-Baraitser_syndrome
gptkb:Zimmermann-Laband_syndrome_1
|
|
gptkbp:biologicalProcess
|
nervous system development
voltage-gated potassium channel activity
action potential
|
|
gptkbp:cellularComponent
|
gptkb:plasma_membrane
|
|
gptkbp:discoveredBy
|
gptkb:N._S._Sanguinetti_et_al.
|
|
gptkbp:encodes
|
gptkb:Potassium_voltage-gated_channel_subfamily_H_member_1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000145945
3756
|
|
gptkbp:expressedIn
|
brain
cancer cells
|
|
gptkbp:firstDescribed
|
1995
|
|
gptkbp:function
|
potassium ion transport
regulation of membrane potential
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:6257
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KCNH1
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
|
|
gptkbp:OMIM
|
603967
|
|
gptkbp:orthologInMouse
|
gptkb:Kcnh1
|
|
gptkbp:proteinFamily
|
gptkb:voltage-gated_potassium_channel
|
|
gptkbp:UniProtID
|
gptkb:Q12809
|
|
gptkbp:bfsParent
|
gptkb:chromosome_1q32
|
|
gptkbp:bfsLayer
|
7
|