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gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:KCNA8
gptkb:KvLQT1
gptkb:LQT1
|
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gptkbp:associatedWith
|
gptkb:Familial_atrial_fibrillation
gptkb:Jervell_and_Lange-Nielsen_syndrome
gptkb:Long_QT_syndrome
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for Long QT syndrome
|
|
gptkbp:discoveredBy
|
Jeffrey A. Towbin
|
|
gptkbp:encodes
|
K_v7.1 potassium channel
|
|
gptkbp:Entrez_Gene_ID
|
3784
|
|
gptkbp:expressedIn
|
heart
pancreas
inner ear
|
|
gptkbp:firstDescribed
|
1996
|
|
gptkbp:function
|
potassium ion transport
regulates cardiac action potential
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
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gptkbp:HGNC_ID
|
6294
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KCNQ1 gene
|
|
gptkbp:interactsWith
|
gptkb:KCNE1
gptkb:KCNE2
gptkb:Yotiao
|
|
gptkbp:length
|
16 exons
|
|
gptkbp:locatedOnChromosome
|
gptkb:11p15.5
chromosome 11
|
|
gptkbp:MIM_number
|
607542
|
|
gptkbp:mutationAssociatedWith
|
deletion
insertion
missense mutation
nonsense mutation
splice site mutation
|
|
gptkbp:OMIM
|
607542
|
|
gptkbp:orthologInMouse
|
gptkb:Kcnq1
|
|
gptkbp:pathway
|
cardiac muscle contraction
insulin secretion
potassium ion transport
|
|
gptkbp:product
|
KCNQ1 protein
|
|
gptkbp:proteinFamily
|
gptkb:voltage-gated_potassium_channel
|
|
gptkbp:referenceGenome
|
gptkb:NM_000218
|
|
gptkbp:regulates
|
regulated by PKA phosphorylation
regulated by calmodulin
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
P51787
|
|
gptkbp:bfsParent
|
gptkb:Jervell_and_Lange-Nielsen_syndrome
gptkb:KvLQT1
gptkb:Jervell_and_Lange-Nielsen
|
|
gptkbp:bfsLayer
|
7
|