InnateDB Protein
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IDBP-231017.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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KCNE1
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Protein Name
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potassium voltage-gated channel, Isk-related family, member 1
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Synonyms
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ISK; JLNS; JLNS2; LQT2/5; LQT5; MinK;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000382226
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InnateDB Gene
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IDBG-2750 (KCNE1)
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Protein Structure
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Function |
Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs) channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr).
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.
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Disease Associations |
Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. {ECO:0000269PubMed:10400998, ECO:0000269PubMed:9328483, ECO:0000269PubMed:9354783}. Note=The disease is caused by mutations affecting the gene represented in this entry.Long QT syndrome 5 (LQT5) [MIM:613695]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269PubMed:10400998, ECO:0000269PubMed:10973849, ECO:0000269PubMed:11692163, ECO:0000269PubMed:9354802, ECO:0000269PubMed:9445165}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in heart, lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells. {ECO:0000269PubMed:9312006}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005249
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voltage-gated potassium channel activity
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GO:0005251
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delayed rectifier potassium channel activity
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GO:0005515
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protein binding
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GO:0015459
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potassium channel regulator activity
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GO:0031433
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telethonin binding
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GO:0086008
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voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
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GO:1902282
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voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
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Biological Process |
GO:0006487
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protein N-linked glycosylation
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GO:0006493
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protein O-linked glycosylation
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GO:0006811
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ion transport
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GO:0007605
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sensory perception of sound
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GO:0060307
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regulation of ventricular cardiac muscle cell membrane repolarization
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GO:0071320
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cellular response to cAMP
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GO:0071435
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potassium ion export
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GO:0071805
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potassium ion transmembrane transport
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GO:0086002
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cardiac muscle cell action potential involved in contraction
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GO:0086005
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ventricular cardiac muscle cell action potential
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GO:0086009
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membrane repolarization
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GO:0086011
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membrane repolarization during action potential
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GO:0086013
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membrane repolarization during cardiac muscle cell action potential
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GO:0086091
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regulation of heart rate by cardiac conduction
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GO:1901379
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regulation of potassium ion transmembrane transport
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GO:1901381
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positive regulation of potassium ion transmembrane transport
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GO:1902259
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regulation of delayed rectifier potassium channel activity
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Cellular Component |
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PDB ID |
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InterPro |
IPR000369
Potassium channel, voltage-dependent, beta subunit, KCNE
IPR005424
Potassium channel, voltage-dependent, beta subunit, KCNE1
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PFAM |
PF02060
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PRINTS |
PR00168
PR01604
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P15382
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PhosphoSite |
PhosphoSite-P15382
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TrEMBL |
Q5DI96
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UniProt Splice Variant |
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Entrez Gene |
3753
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UniGene |
Hs.121495
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RefSeq |
NP_000210
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HUGO |
HGNC:6240
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OMIM |
176261
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CCDS |
CCDS13636
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HPRD |
01442
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IMGT |
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EMBL |
AF135188
AK304336
AY789479
AY789480
BC036452
DQ784803
EF514881
EF514882
EU008570
L28168
L33815
M26685
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GenPept |
AAA36129
AAA58418
AAA63905
AAD25096
AAH36452
AAX11417
AAX11418
ABQ01238
ABS31134
ABS84249
ABS84250
BAG65181
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