|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:KCNA8
gptkb:KvLQT1
gptkb:LQT1
|
|
gptkbp:alternativeName
|
gptkb:KCNA8
gptkb:KvLQT1
gptkb:LQT1
|
|
gptkbp:associatedWith
|
gptkb:Jervell_and_Lange-Nielsen_syndrome
gptkb:Long_QT_syndrome
familial atrial fibrillation
|
|
gptkbp:biologicalProcess
|
cardiac muscle contraction
insulin secretion
voltage-gated potassium channel activity
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Wang et al.
|
|
gptkbp:encodes
|
gptkb:potassium_voltage-gated_channel_subfamily_Q_member_1
|
|
gptkbp:Entrez_Gene_ID
|
3784
|
|
gptkbp:expressedIn
|
heart
pancreas
|
|
gptkbp:firstDescribed
|
1996
|
|
gptkbp:foundIn
|
gptkb:Mus_musculus
gptkb:Homo_sapiens
gptkb:Rattus_norvegicus
|
|
gptkbp:function
|
potassium ion transport
regulation of cardiac action potential
|
|
gptkbp:gene
|
gptkb:KCNQ1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
6294
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
KCNQ1
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
|
|
gptkbp:interactsWith
|
gptkb:KCNE1
gptkb:KCNE2
gptkb:Yotiao
|
|
gptkbp:length
|
676 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:11p15.5
chromosome 11
|
|
gptkbp:mutationAssociatedWith
|
congenital deafness
prolonged QT interval
|
|
gptkbp:OMIM
|
607542
|
|
gptkbp:orthologInMouse
|
gptkb:Kcnq1
|
|
gptkbp:pathway
|
cardiac action potential
potassium ion transport
|
|
gptkbp:proteinFamily
|
gptkb:KCNQ_family
gptkb:voltage-gated_potassium_channel
|
|
gptkbp:referenceGenome
|
gptkb:NM_000218
|
|
gptkbp:subcellularLocation
|
gptkb:plasma_membrane
|
|
gptkbp:transmembraneDomains
|
6
|
|
gptkbp:UniProtID
|
P51787
|
|
gptkbp:bfsParent
|
gptkb:chromosome_11p15.5_(HRAS)
|
|
gptkbp:bfsLayer
|
5
|