HUMAN:KCNE1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	KCNE1
Protein Name(s)	Potassium voltage-gated channel subfamily E member 1 Delayed rectifier potassium channel subunit IsK IKs producing slow voltage-gated potassium channel subunit beta Mink Minimal potassium channel
External Links
UniProt	P15382
EMBL	M26685 L33815 L28168 AF135188 DQ784803 BC036452
CCDS	CCDS13636.1
PIR	A32447
RefSeq	NP_000210.2 NP_001121140.1 NP_001121141.1 NP_001121142.1 NP_001257331.1 NP_001257332.1 NP_001257333.1 NP_001257334.1
UniGene	Hs.121495 Hs.745384
PDB	2K21
PDBsum	2K21
ProteinModelPortal	P15382
SMR	P15382
BioGrid	109955
IntAct	P15382
MINT	MINT-7297782
STRING	9606.ENSP00000337255
BindingDB	P15382
ChEMBL	CHEMBL4872
DrugBank	DB00808
PhosphoSite	P15382
DMDM	116416
PaxDb	P15382
PRIDE	P15382
DNASU	3753
Ensembl	ENST00000337385 ENST00000399284 ENST00000399286 ENST00000399289 ENST00000416357 ENST00000432085 ENST00000611936 ENST00000621601
GeneID	3753
KEGG	hsa:3753
UCSC	uc002ytz.4
CTD	3753
GeneCards	GC21M035818
GeneReviews	KCNE1
HGNC	HGNC:6240
HPA	HPA013752
MIM	176261 612347 613695
neXtProt	NX_P15382
Orphanet	334 90647 101016
PharmGKB	PA211
eggNOG	NOG41824
GeneTree	ENSGT00510000048994
HOGENOM	HOG000113207
HOVERGEN	HBG052226
InParanoid	P15382
KO	K04894
OMA	ALYILMV
OrthoDB	EOG7WMCMH
PhylomeDB	P15382
TreeFam	TF335976
ChiTaRS	KCNE1
EvolutionaryTrace	P15382
GeneWiki	KCNE1
GenomeRNAi	3753
NextBio	14697
PRO	PR:P15382
Proteomes	UP000005640
Bgee	P15382
CleanEx	HS_KCNE1
ExpressionAtlas	P15382
Genevestigator	P15382
GO	GO:0009986 GO:0005764 GO:0005886 GO:0008076 GO:0030018 GO:0015459 GO:0031433 GO:0005249 GO:0086002 GO:0071320 GO:0086009 GO:0086011 GO:0086013 GO:1901381 GO:0071435 GO:0071805 GO:0006487 GO:0006493 GO:1902259 GO:0086091 GO:1901379 GO:0060307 GO:0007605 GO:0086005
InterPro	IPR000369 IPR005424
PANTHER	PTHR17028
Pfam	PF02060
PRINTS	PR01604 PR00168

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
enables	GO:0015459	potassium channel regulator activity	PMID:11220365^[1]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
colocalizes_with	GO:0008076	voltage-gated potassium channel complex	PMID:19219384^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:19219384^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0015459	potassium channel regulator activity	PMID:19219384^[2]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1902260	negative regulation of delayed rectifier potassium channel activity	PMID:19219384^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005251	delayed rectifier potassium channel activity	PMID:24269949^[3]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0098915	membrane repolarization during ventricular cardiac muscle cell action potential	PMID:9354802^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086011	membrane repolarization during action potential	PMID:19646991^[5]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
contributes_to	GO:0005251	delayed rectifier potassium channel activity	PMID:19646991^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0008076	voltage-gated potassium channel complex	PMID:19646991^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15383	C		Seeded From UniProt	complete
involved_in	GO:0090315	negative regulation of protein targeting to membrane	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15383	P		Seeded From UniProt	complete
contributes_to	GO:1902282	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	PMID:9354802^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:1902259	regulation of delayed rectifier potassium channel activity	PMID:10400998^[6]	ECO:0000314	direct assay evidence used in manual assertion		P	has_direct_input:(UniProtKB:P51787)	Seeded From UniProt	complete
involved_in	GO:1901381	positive regulation of potassium ion transmembrane transport	PMID:8900283^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:1901379	regulation of potassium ion transmembrane transport	PMID:10400998^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086091	regulation of heart rate by cardiac conduction	PMID:10400998^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086013	membrane repolarization during cardiac muscle cell action potential	PMID:10400998^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086013	membrane repolarization during cardiac muscle cell action potential	PMID:8900283^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086011	membrane repolarization during action potential	PMID:11299204^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086011	membrane repolarization during action potential	PMID:8900283^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086009	membrane repolarization	PMID:8900283^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
contributes_to	GO:0086008	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	PMID:10400998^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0086005	ventricular cardiac muscle cell action potential	PMID:9354802^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0086002	cardiac muscle cell action potential involved in contraction	PMID:10400998^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0071805	potassium ion transmembrane transport	PMID:11299204^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0071805	potassium ion transmembrane transport	PMID:9354802^[4]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0071805	potassium ion transmembrane transport	PMID:8900283^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0097623	potassium ion export across plasma membrane	PMID:17289006^[9]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0097623	potassium ion export across plasma membrane	PMID:10400998^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0097623	potassium ion export across plasma membrane	PMID:8900283^[7]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0071320	cellular response to cAMP	PMID:11299204^[8]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	PMID:9354802^[4]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0031433	telethonin binding	PMID:11697903^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:O15273	F		Seeded From UniProt	complete
part_of	GO:0030018	Z disc	PMID:11697903^[10]	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P15383	C	part_of:(CL:0000746)	Seeded From UniProt	complete
enables	GO:0015459	potassium channel regulator activity	PMID:10400998^[6]	ECO:0000314	direct assay evidence used in manual assertion		F	has_direct_input:(UniProtKB:P51787)	Seeded From UniProt	complete
enables	GO:0015459	potassium channel regulator activity	PMID:12522251^[11]	ECO:0000314	direct assay evidence used in manual assertion		F	has_direct_input:(UniProtKB:P51787)	Seeded From UniProt	complete
enables	GO:0015459	potassium channel regulator activity	PMID:8900283^[7]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0009986	cell surface	PMID:10400998^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0008076	voltage-gated potassium channel complex	PMID:17289006^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0008076	voltage-gated potassium channel complex	PMID:8900283^[7]	ECO:0000305	curator inference used in manual assertion	GO:0005251	C		Seeded From UniProt	complete
contributes_to	GO:0005251	delayed rectifier potassium channel activity	PMID:11299204^[8]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
contributes_to	GO:0005251	delayed rectifier potassium channel activity	PMID:9354802^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
contributes_to	GO:0005251	delayed rectifier potassium channel activity	PMID:10400998^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
contributes_to	GO:0005251	delayed rectifier potassium channel activity	PMID:12522251^[11]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
contributes_to	GO:0005251	delayed rectifier potassium channel activity	PMID:8900283^[7]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
contributes_to	GO:0005249	voltage-gated potassium channel activity	PMID:17289006^[9]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:16780588^[12]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:16780588^[12]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
contributes_to	GO:1902282	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001445835 UniProtKB:P15382	F		Seeded From UniProt	complete
involved_in	GO:1902260	negative regulation of delayed rectifier potassium channel activity	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001445835 RGD:2956 RGD:621383 RGD:621384 UniProtKB:P15382 UniProtKB:Q9Y6H6 UniProtKB:Q9Y6J6	P		Seeded From UniProt	complete
involved_in	GO:0097623	potassium ion export across plasma membrane	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001445835 UniProtKB:Q9Y6J6	P		Seeded From UniProt	complete
involved_in	GO:0086091	regulation of heart rate by cardiac conduction	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:96673 PANTHER:PTN001445835 UniProtKB:P15382 UniProtKB:Q9UJ90 UniProtKB:Q9Y6H6 UniProtKB:Q9Y6J6	P		Seeded From UniProt	complete
involved_in	GO:0086011	membrane repolarization during action potential	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001445835 RGD:621383 UniProtKB:P15382 UniProtKB:Q9UJ90 UniProtKB:Q9Y6J6	P		Seeded From UniProt	complete
involved_in	GO:0086005	ventricular cardiac muscle cell action potential	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1891123 PANTHER:PTN001445835 UniProtKB:P15382 UniProtKB:Q9UJ90 UniProtKB:Q9Y6J6	P		Seeded From UniProt	complete
involved_in	GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1891123 PANTHER:PTN001445835 UniProtKB:P15382 UniProtKB:Q9UJ90 UniProtKB:Q9Y6H6 UniProtKB:Q9Y6J6	P		Seeded From UniProt	complete
enables	GO:0044325	ion channel binding	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001445835 RGD:2956 RGD:621383 RGD:621384 UniProtKB:Q8WWG9 UniProtKB:Q9UJ90 UniProtKB:Q9Y6J6	F		Seeded From UniProt	complete
enables	GO:0015459	potassium channel regulator activity	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:96673 PANTHER:PTN001445835 RGD:2956 RGD:621383 RGD:621384 UniProtKB:P15382 UniProtKB:Q9UJ90 UniProtKB:Q9Y6H6 UniProtKB:Q9Y6J6	F		Seeded From UniProt	complete
colocalizes_with	GO:0008076	voltage-gated potassium channel complex	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001445835 RGD:2956 RGD:621383 RGD:621384 UniProtKB:P15382 UniProtKB:Q9Y6H6 UniProtKB:Q9Y6J6	C		Seeded From UniProt	complete
contributes_to	GO:0005251	delayed rectifier potassium channel activity	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN001445835 RGD:621383 UniProtKB:P15382 UniProtKB:Q9Y6J6	F		Seeded From UniProt	complete
enables	GO:0005249	voltage-gated potassium channel activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000369 InterPro:IPR005424	F		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000369	P		Seeded From UniProt	complete
involved_in	GO:0006813	potassium ion transport	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR005424	P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000369 InterPro:IPR005424	C		Seeded From UniProt	complete
involved_in	GO:0007605	sensory perception of sound	PMID:9020846^[14]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0061337	cardiac conduction	Reactome:R-HSA-5576893 Reactome:R-HSA-5576890	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	Reactome:R-HSA-5577237 Reactome:R-HSA-5577050	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0034765	regulation of ion transmembrane transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0851	P		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
involved_in	GO:0071805	potassium ion transmembrane transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0631	P		Seeded From UniProt	complete
involved_in	GO:0006813	potassium ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0633	P		Seeded From UniProt	complete
enables	GO:0005267	potassium channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0631	F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
enables	GO:0005244	voltage-gated ion channel activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0851	F		Seeded From UniProt	complete
part_of	GO:0045121	membrane raft	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0370	C		Seeded From UniProt	complete
part_of	GO:0016324	apical plasma membrane	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0015	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Kunzelmann, K et al. (2001) Cloning and function of the rat colonic epithelial K+ channel KVLQT1. J. Membr. Biol. 179 155-64 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 McCrossan, ZA et al. (2009) Regulation of the Kv2.1 potassium channel by MinK and MiRP1. J. Membr. Biol. 228 1-14 PubMed GONUTS page
↑ Bartos, DC et al. (2014) A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation. Heart Rhythm 11 459-68 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 Splawski, I et al. (1997) Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat. Genet. 17 338-40 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Abraham, RL et al. (2010) Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. J. Mol. Cell. Cardiol. 48 181-90 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 ^6.6 ^6.7 ^6.8 ^6.9 Bianchi, L et al. (1999) Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. Hum. Mol. Genet. 8 1499-507 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 ^7.7 ^7.8 Sanguinetti, MC et al. (1996) Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384 80-3 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 ^8.3 Potet, F et al. (2001) AKAP proteins anchor cAMP-dependent protein kinase to KvLQT1/IsK channel complex. Am. J. Physiol. Heart Circ. Physiol. 280 H2038-45 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Jespersen, T et al. (2007) The KCNQ1 potassium channel is down-regulated by ubiquitylating enzymes of the Nedd4/Nedd4-like family. Cardiovasc. Res. 74 64-74 PubMed GONUTS page
↑ ^10.0 ^10.1 Furukawa, T et al. (2001) Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. J. Mol. Biol. 313 775-84 PubMed GONUTS page
↑ ^11.0 ^11.1 Chen, YH et al. (2003) KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299 251-4 PubMed GONUTS page
↑ ^12.0 ^12.1 Hu, YH et al. (2006) Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. BMC Genomics 7 155 PubMed GONUTS page
↑ ^13.00 ^13.01 ^13.02 ^13.03 ^13.04 ^13.05 ^13.06 ^13.07 ^13.08 ^13.09 ^13.10 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Neyroud, N et al. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 15 186-9 PubMed GONUTS page

[PMID:11220365-1] Kunzelmann, K et al. (2001) Cloning and function of the rat colonic epithelial K+ channel KVLQT1. J. Membr. Biol. 179 155-64 PubMed GONUTS page

[PMID:19219384-2] 2.0 ^2.1 ^2.2 ^2.3 McCrossan, ZA et al. (2009) Regulation of the Kv2.1 potassium channel by MinK and MiRP1. J. Membr. Biol. 228 1-14 PubMed GONUTS page

[PMID:24269949-3] Bartos, DC et al. (2014) A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation. Heart Rhythm 11 459-68 PubMed GONUTS page

[PMID:9354802-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 ^4.5 Splawski, I et al. (1997) Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat. Genet. 17 338-40 PubMed GONUTS page

[PMID:19646991-5] 5.0 ^5.1 ^5.2 Abraham, RL et al. (2010) Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. J. Mol. Cell. Cardiol. 48 181-90 PubMed GONUTS page

[PMID:10400998-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 ^6.6 ^6.7 ^6.8 ^6.9 Bianchi, L et al. (1999) Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. Hum. Mol. Genet. 8 1499-507 PubMed GONUTS page

[PMID:8900283-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 ^7.7 ^7.8 Sanguinetti, MC et al. (1996) Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 384 80-3 PubMed GONUTS page

[PMID:11299204-8] 8.0 ^8.1 ^8.2 ^8.3 Potet, F et al. (2001) AKAP proteins anchor cAMP-dependent protein kinase to KvLQT1/IsK channel complex. Am. J. Physiol. Heart Circ. Physiol. 280 H2038-45 PubMed GONUTS page

[PMID:17289006-9] 9.0 ^9.1 ^9.2 Jespersen, T et al. (2007) The KCNQ1 potassium channel is down-regulated by ubiquitylating enzymes of the Nedd4/Nedd4-like family. Cardiovasc. Res. 74 64-74 PubMed GONUTS page

[PMID:11697903-10] 10.0 ^10.1 Furukawa, T et al. (2001) Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. J. Mol. Biol. 313 775-84 PubMed GONUTS page

[PMID:12522251-11] 11.0 ^11.1 Chen, YH et al. (2003) KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 299 251-4 PubMed GONUTS page

[PMID:16780588-12] 12.0 ^12.1 Hu, YH et al. (2006) Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. BMC Genomics 7 155 PubMed GONUTS page

[PMID:21873635-13] 13.00 ^13.01 ^13.02 ^13.03 ^13.04 ^13.05 ^13.06 ^13.07 ^13.08 ^13.09 ^13.10 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:9020846-14] Neyroud, N et al. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat. Genet. 15 186-9 PubMed GONUTS page

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HUMAN:KCNE1

Contents

Annotations

Notes

References

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