|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:LQT1
gptkb:Kv7.1
JLNS2
|
|
gptkbp:alternativeName
|
gptkb:KCNA8
gptkb:KvLQT1
|
|
gptkbp:associatedWith
|
gptkb:Familial_atrial_fibrillation
gptkb:Jervell_and_Lange-Nielsen_syndrome
gptkb:Long_QT_syndrome
|
|
gptkbp:biologicalProcess
|
potassium ion transport
regulation of cardiac action potential
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Long QT syndrome
|
|
gptkbp:discoveredBy
|
Jeffrey A. Towbin
|
|
gptkbp:encodes
|
gptkb:Potassium_voltage-gated_channel_subfamily_Q_member_1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000053918
3784
|
|
gptkbp:expressedIn
|
heart
pancreas
inner ear
|
|
gptkbp:function
|
voltage-gated potassium channel activity
|
|
gptkbp:gene
|
gptkb:KCNQ1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
6294
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KCNQ1 (human)
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:interactsWith
|
gptkb:KCNE1
gptkb:KCNE2
gptkb:Yotiao
|
|
gptkbp:length
|
676
|
|
gptkbp:locatedOnChromosome
|
gptkb:11p15.5
chromosome 11
|
|
gptkbp:location
|
gptkb:sarcolemma
T-tubule
intercalated disc
|
|
gptkbp:molecularWeight
|
75 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:arrhythmia
deafness
|
|
gptkbp:OMIM
|
607542
|
|
gptkbp:orthologInMouse
|
gptkb:Kcnq1
|
|
gptkbp:pathway
|
cardiac muscle contraction
insulin secretion
|
|
gptkbp:proteinFamily
|
voltage-gated potassium channels
|
|
gptkbp:regulates
|
gptkb:cAMP-dependent_protein_kinase
phosphorylation
|
|
gptkbp:subcellularLocation
|
gptkb:cell_membrane
gptkb:plasma_membrane
|
|
gptkbp:UniProtID
|
P51787
|
|
gptkbp:bfsParent
|
gptkb:Kcnq1
|
|
gptkbp:bfsLayer
|
7
|