|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
minK
|
|
gptkbp:associatedWith
|
gptkb:Jervell_and_Lange-Nielsen_syndrome
gptkb:Long_QT_syndrome
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for LQTS
|
|
gptkbp:discoveredBy
|
gptkb:Michael_J._Sanguinetti
|
|
gptkbp:encodes
|
gptkb:Potassium_voltage-gated_channel_subfamily_E_member_1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000180509
3753
|
|
gptkbp:expressedIn
|
heart
inner ear
|
|
gptkbp:firstDescribed
|
1986
|
|
gptkbp:foundIn
|
gptkb:plasma_membrane
|
|
gptkbp:function
|
modulates cardiac potassium channels
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:6240
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KCNE1
|
|
gptkbp:involvedIn
|
potassium ion transport
auditory function
cardiac action potential repolarization
|
|
gptkbp:length
|
129 amino acids
|
|
gptkbp:locatedOnChromosome
|
21q22.12
|
|
gptkbp:mutationAssociatedWith
|
sudden cardiac death
prolonged QT interval
ventricular arrhythmia
A98S
D76N
D85N
G38S
G52R
G60D
L51H
L59P
Q147R
R98W
S74G
S74L
T58A
T58P
V47I
can cause cardiac arrhythmia
sensorineural deafness
|
|
gptkbp:OMIM
|
176261
|
|
gptkbp:orthologInMouse
|
gptkb:Kcne1
|
|
gptkbp:product
|
gptkb:KCNE1_protein
|
|
gptkbp:proteinFamily
|
gptkb:KCNE_family
|
|
gptkbp:referenceGenome
|
gptkb:NM_000219
|
|
gptkbp:referenceSequenceProtein
|
gptkb:NP_000210
|
|
gptkbp:regulates
|
gptkb:KCNQ1
gptkb:IKs_current
|
|
gptkbp:relatedTo
|
gptkb:KCNE2
gptkb:KCNQ1
gptkb:KCNE3
gptkb:KCNE4
gptkb:KCNE5
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:transmembraneDomains
|
1
|
|
gptkbp:UniProtID
|
gptkb:P15382
|
|
gptkbp:bfsParent
|
gptkb:21q22.11
gptkb:KCNQ1
|
|
gptkbp:bfsLayer
|
6
|