Homo sapiens Gene: KCNE1
Summary
InnateDB Gene IDBG-2750.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCNE1
Gene Name potassium voltage-gated channel, Isk-related family, member 1
Synonyms ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK;
Species Homo sapiens
Ensembl Gene ENSG00000180509
Encoded Proteins
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related family, member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:34446688-34512275
Strand Reverse strand
Band q22.12
Transcripts
ENST00000337385 ENSP00000337255
ENST00000399289 ENSP00000382228
ENST00000399286 ENSP00000382226
ENST00000399284 ENSP00000382225
ENST00000432085 ENSP00000412498
ENST00000416357 ENSP00000416258
ENST00000489175
ENST00000621601 ENSP00000483895
ENST00000611936 ENSP00000478215
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005515 protein binding
GO:0015459 potassium channel regulator activity
GO:0031433 telethonin binding
GO:0086008 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
Biological Process
GO:0006487 protein N-linked glycosylation
GO:0006493 protein O-linked glycosylation
GO:0006811 ion transport
GO:0007605 sensory perception of sound
GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization
GO:0071320 cellular response to cAMP
GO:0071435 potassium ion export
GO:0071805 potassium ion transmembrane transport
GO:0086002 cardiac muscle cell action potential involved in contraction
GO:0086005 ventricular cardiac muscle cell action potential
GO:0086009 membrane repolarization
GO:0086011 membrane repolarization during action potential
GO:0086013 membrane repolarization during cardiac muscle cell action potential
GO:0086091 regulation of heart rate by cardiac conduction
GO:1901379 regulation of potassium ion transmembrane transport
GO:1901381 positive regulation of potassium ion transmembrane transport
GO:1902259 regulation of delayed rectifier potassium channel activity
Cellular Component
GO:0005764 lysosome
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0009986 cell surface
GO:0016020 membrane
GO:0030018 Z disc
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt P15382
TrEMBL A7LFK4 B4E2L9 C7S316 Q5DI96
UniProt Splice Variant
Entrez Gene 3753
UniGene Hs.121495
RefSeq NM_000219 NM_001127668 NM_001127669 NM_001127670 NM_001270402 NM_001270403 NM_001270404 NM_001270405 XM_006723946 XM_006723949
HUGO HGNC:6240
OMIM 176261
CCDS CCDS13636
HPRD
IMGT
EMBL AF135188 AK304336 AY789479 AY789480 BC036452 DQ784803 EF514881 EF514882 EU008570 L28168 L33815 M26685
GenPept AAA36129 AAA58418 AAA63905 AAD25096 AAH36452 AAX11417 AAX11418 ABQ01238 ABS31134 ABS84249 ABS84250 BAG65181
RNA Seq Atlas 102723475 3753