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gptkbp:instanceOf
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gptkb:gene
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|
gptkbp:alsoKnownAs
|
minK
IsK
|
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gptkbp:associatedWith
|
gptkb:Jervell_and_Lange-Nielsen_syndrome
gptkb:Long_QT_syndrome
|
|
gptkbp:chromosomeArm
|
21q22.12
|
|
gptkbp:discoveredBy
|
Dr. Gail A. Robertson
|
|
gptkbp:encodes
|
gptkb:Potassium_voltage-gated_channel_subfamily_E_member_1
|
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gptkbp:Entrez_Gene_ID
|
3753
|
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gptkbp:expressedIn
|
heart
inner ear
|
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gptkbp:function
|
modulates cardiac potassium channels
regulates IKs current
|
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gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
KCNE1-201
KCNE1-202
|
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gptkbp:HGNC_ID
|
HGNC:6248
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KCNE1 gene
|
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gptkbp:interactsWith
|
gptkb:KCNQ1
gptkb:KCNH2
|
|
gptkbp:length
|
3 exons
|
|
gptkbp:locatedOnChromosome
|
chromosome 21
|
|
gptkbp:mutationAssociatedWith
|
can cause cardiac arrhythmia
can cause congenital deafness
|
|
gptkbp:OMIM
|
176261
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Kcne1
|
|
gptkbp:product
|
gptkb:KCNE1_protein
|
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gptkbp:regulates
|
potassium ion transport
cardiac action potential duration
|
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gptkbp:UniProtID
|
gptkb:P15382
|
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gptkbp:bfsParent
|
gptkb:Jervell_and_Lange-Nielsen_syndrome
gptkb:Jervell_and_Lange-Nielsen
|
|
gptkbp:bfsLayer
|
7
|