• Gene id: 3753

Gene Summary

• Gene Symbol: KCNE1   Gene   UCSC   Ensembl
• Aliases: ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK
• Gene name: potassium voltage-gated channel subfamily E regulatory subunit 1
• Alternate names: potassium voltage-gated channel subfamily E member 1, IKs producing slow voltage-gated potassium channel subunit beta Mink, Long QT syndrome 5, cardiac delayed rectifier potassium channel protein, delayed rectifier potassium channel subunit IsK, minimal potass,
• Gene location: 21q22.12 (34512209: 34446687)     Exons: 7     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 150310

Protein Summary

• Protein general information: P15382  
  • Name: 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)
  • Length: 129  
  • Mass: 14675
  • Tissue specificity: Expressed in lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Expressed in the heart (PubMed
• Sequence:

  MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSN
  DPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP

• Structural information:
  • Interpro: IPR000369  IPR005424  
  • PDB: 2K21
  • PDBsum: 2K21
  • STRING: ENSP00000337255
• Other Databases: GeneCards:  KCNE1  Malacards:  KCNE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902282	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA	contributes to
GO:1902260	negative regulation of delayed rectifier potassium channel activity	IBA	biological process
GO:0097623	potassium ion export across plasma membrane	IBA	biological process
GO:0086011	membrane repolarization during action potential	IBA	biological process
GO:0086005	ventricular cardiac muscle cell action potential	IBA	biological process
GO:0044325	ion channel binding	IBA	molecular function
GO:0005251	delayed rectifier potassium channel activity	IBA	contributes to
GO:0086091	regulation of heart rate by cardiac conduction	IBA	biological process
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IBA	biological process
GO:0015459	potassium channel regulator activity	IBA	molecular function
GO:0008076	voltage-gated potassium channel complex	IBA	colocalizes with
GO:0005251	delayed rectifier potassium channel activity	IDA	molecular function
GO:1902260	negative regulation of delayed rectifier potassium channel activity	IDA	biological process
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0008076	voltage-gated potassium channel complex	IDA	colocalizes with
GO:0005886	plasma membrane	IDA	cellular component
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005249	voltage-gated potassium channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005267	potassium channel activity	IEA	molecular function
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0007605	sensory perception of sound	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0061337	cardiac conduction	TAS	biological process
GO:0061337	cardiac conduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098915	membrane repolarization during ventricular cardiac muscle cell action potential	IMP	biological process
GO:0005251	delayed rectifier potassium channel activity	IDA	contributes to
GO:0005251	delayed rectifier potassium channel activity	IDA	contributes to
GO:0005251	delayed rectifier potassium channel activity	IDA	contributes to
GO:0005251	delayed rectifier potassium channel activity	IDA	contributes to
GO:0005251	delayed rectifier potassium channel activity	IDA	contributes to
GO:0086008	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IDA	contributes to
GO:0005251	delayed rectifier potassium channel activity	IDA	contributes to
GO:1902282	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	contributes to
GO:0005249	voltage-gated potassium channel activity	IDA	contributes to
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0015459	potassium channel regulator activity	IDA	molecular function
GO:0031433	telethonin binding	IPI	molecular function
GO:0071320	cellular response to cAMP	IDA	biological process
GO:0097623	potassium ion export across plasma membrane	IDA	biological process
GO:0097623	potassium ion export across plasma membrane	IDA	biological process
GO:0097623	potassium ion export across plasma membrane	IDA	biological process
GO:0086011	membrane repolarization during action potential	IDA	biological process
GO:0086011	membrane repolarization during action potential	IDA	biological process
GO:0086013	membrane repolarization during cardiac muscle cell action potential	IDA	biological process
GO:1901381	positive regulation of potassium ion transmembrane transport	IDA	biological process
GO:1902259	regulation of delayed rectifier potassium channel activity	IDA	biological process
GO:0086011	membrane repolarization during action potential	IDA	biological process
GO:0086002	cardiac muscle cell action potential involved in contraction	IMP	biological process
GO:0086005	ventricular cardiac muscle cell action potential	IMP	biological process
GO:0086013	membrane repolarization during cardiac muscle cell action potential	IMP	biological process
GO:0008076	voltage-gated potassium channel complex	IC	cellular component
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0086009	membrane repolarization	IDA	biological process
GO:1901379	regulation of potassium ion transmembrane transport	IDA	biological process
GO:0008076	voltage-gated potassium channel complex	IDA	cellular component
GO:0030018	Z disc	ISS	cellular component
GO:0060307	regulation of ventricular cardiac muscle cell membrane repolarization	IMP	biological process
GO:0086091	regulation of heart rate by cardiac conduction	IMP	biological process
GO:0090315	negative regulation of protein targeting to membrane	ISS	biological process
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005764	lysosome	HDA	cellular component
GO:0005886	plasma membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04261	Adrenergic signaling in cardiomyocytes

Diseases

Associated diseases	References
Long QT syndrome	KEGG:H00720
Jervell and Lange-Nielsen syndrome	KEGG:H02091
Long QT syndrome	KEGG:H00720
Jervell and Lange-Nielsen syndrome	KEGG:H02091
Atrial fibrillation	PMID:12228786
Jervell-Lange Nielsen syndrome	PMID:16987820
Long QT syndrome	PMID:15840476
seminoma	PMID:15389592
congestive heart failure	PMID:17384445
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881