Version 5.4
Homo sapiens Gene: KCNQ1
Summary
InnateDB Gene IDBG-22998.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCNQ1
Gene Name potassium voltage-gated channel, KQT-like subfamily, member 1
Synonyms ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1; LQT; LQT1; RWS; SQT2; WRS
Species Homo sapiens
Ensembl Gene ENSG00000053918
Encoded Proteins
IDBP-23000
potassium voltage-gated channel, KQT-like subfamily, member 1
IDBP-23002
potassium voltage-gated channel, KQT-like subfamily, member 1
IDBP-23004
potassium voltage-gated channel, KQT-like subfamily, member 1
IDBP-595974
potassium voltage-gated channel, KQT-like subfamily, member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:2444684-2849109
Strand Forward strand
Band p15.5
Transcripts
ENST00000155840 ENSP00000155840
ENST00000380776 ENSP00000370153
ENST00000335475 ENSP00000334497
ENST00000345015
ENST00000496887 ENSP00000434560
ENST00000526095
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated
Total 25 [view]
Protein-Protein 25 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0008157 protein phosphatase 1 binding
GO:0034236 protein kinase A catalytic subunit binding
GO:0034237 protein kinase A regulatory subunit binding
GO:0044325 ion channel binding
GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
GO:0086089 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization
GO:0097110 scaffold protein binding
GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
Biological Process
GO:0006349 regulation of gene expression by genetic imprinting
GO:0006811 ion transport
GO:0007268 synaptic transmission
GO:0007605 sensory perception of sound
GO:0008016 regulation of heart contraction
GO:0016458 gene silencing
GO:0035690 cellular response to drug
GO:0055085 transmembrane transport
GO:0060048 cardiac muscle contraction
GO:0060306 regulation of membrane repolarization
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0060372 regulation of atrial cardiac muscle cell membrane repolarization
GO:0071320 cellular response to cAMP
GO:0071435 potassium ion export
GO:0071805 potassium ion transmembrane transport
GO:0071872 cellular response to epinephrine stimulus
GO:0072358 cardiovascular system development
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086011 membrane repolarization during action potential
GO:0086013 membrane repolarization during cardiac muscle cell action potential
GO:0086014 atrial cardiac muscle cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:1901381 positive regulation of potassium ion transmembrane transport
Cellular Component
GO:0005764 lysosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000009545
View Gene Order
ENSBTAG00000010986
Not yet available
Pathways
NETPATH
NetPath_9
TNFalpha pathway
REACTOME
REACT_75770
Voltage gated Potassium channels pathway
REACT_13685
Neuronal System pathway
REACT_75908
Potassium Channels pathway
KEGG
hsa05110
Vibrio cholerae infection pathway
hsa04971
Gastric acid secretion pathway
hsa04972
Pancreatic secretion pathway
hsa04974
Protein digestion and absorption pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000218 NM_181798
HUGO
OMIM
CCDS CCDS7736
HPRD 06341
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca