Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcne1provided by MGI
Official Full Name: potassium voltage-gated channel, Isk-related subfamily, member 1provided by MGI
Primary source: MGI:MGI:96673
See related: Ensembl:ENSMUSG00000039639 AllianceGenome:MGI:96673
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Isk; MinK; nmf190
Summary: Enables potassium channel regulator activity. Involved in potassium ion transmembrane transport; secretory granule organization; and vestibular nucleus development. Acts upstream of or within epithelial cell maturation; heart contraction; and regulation of heart rate by cardiac conduction. Located in apical plasma membrane. Is active in cell surface. Is expressed in several structures, including ear; embryo ectoderm; genitourinary system; great vessel of heart; and heart. Used to study Jervell-Lange Nielsen syndrome. Human ortholog(s) of this gene implicated in Jervell-Lange Nielsen syndrome; atrial fibrillation; long QT syndrome; and long QT syndrome 5. Orthologous to human KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in kidney adult (RPKM 8.7), heart adult (RPKM 4.7) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 C4; 16 53.57 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (92142889..92156356, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (92346001..92359468, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KCNE1 does not shift TMEM16A from a Ca[2+] dependent to a voltage dependent Cl[-] channel and is not expressed in renal proximal tubule.
Title: KCNE1 does not shift TMEM16A from a Ca(2+) dependent to a voltage dependent Cl(-) channel and is not expressed in renal proximal tubule.
KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies.
Title: KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies.
Elevation of propofol sensitivity of cardiac IKs channel by KCNE1 polymorphism D85N.
Title: Elevation of propofol sensitivity of cardiac I(Ks) channel by KCNE1 polymorphism D85N.
SUMOylation of KCNQ1 is KCNE1 dependent and determines the native attributes of cardiac IKs in vivo.
Title: SUMOylation determines the voltage required to activate cardiac I(Ks) channels.
The electrophysiological effects of BACE1 on KCNQ1 reported here were independent of its enzymatic activity.
Title: BACE1 modulates gating of KCNQ1 (Kv7.1) and cardiac delayed rectifier KCNQ1/KCNE1 (IKs).
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation
Title: KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
KCNE1 and KCNE2, auxiliary subunits of voltage-gated potassium channels, undergo sequential cleavage mediated by either alpha-secretase and presenilin(PS)/gamma-secretase or BACE1 and PS/gamma-secretase in cells.
Title: BACE1 and presenilin/γ-secretase regulate proteolytic processing of KCNE1 and 2, auxiliary subunits of voltage-gated potassium channels.
In clearance studies the KCNE1 knockout mice had an increased fractional excretion of Na+, Cl-, HCO3(-) and water.
Title: Renal defects in KCNE1 knockout mice are mimicked by chromanol 293B in vivo: identification of a KCNE1-regulated K+ conductance in the proximal tubule.
This study confirmed that KCNE1 channels are necessary for K+ secretion in developmental Saccule and Utricle in mice.
Title: Critical roles of transitional cells and Na/K-ATPase in the formation of vestibular endolymph.
Beta-adrenergic receptor-regulated I Ks channels can play a role in atrial fibrillation.
Title: Adrenergic regulation of a key cardiac potassium channel can contribute to atrial fibrillation: evidence from an I Ks transgenic mouse.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Targeted (4) 1 citation
Chemically induced (ENU) (1)

General gene information

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Markers

Kcne1 (e-PCR), detects polymorphism
- UniSTS:259098

Kcne1 (e-PCR), detects polymorphism
- UniSTS:259627

X60457 (e-PCR)
- UniSTS:160595

Kcne1 (e-PCR), detects polymorphism
- UniSTS:463212

X60457 (e-PCR)
- UniSTS:125819

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to delayed rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables delayed rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
enables potassium channel activity	IEA Inferred from Electronic Annotation more info
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables potassium channel regulator activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables telethonin binding	ISO Inferred from Sequence Orthology more info
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info
NOT enables voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	ISO Inferred from Sequence Orthology more info
contributes_to voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cardiac muscle cell action potential involved in contraction	ISO Inferred from Sequence Orthology more info
involved_in cellular response to acidic pH	ISO Inferred from Sequence Orthology more info
involved_in cellular response to cAMP	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within epithelial cell maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization	ISO Inferred from Sequence Orthology more info
involved_in membrane repolarization during action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane repolarization during action potential	ISO Inferred from Sequence Orthology more info
involved_in membrane repolarization during cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of delayed rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein targeting to membrane	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in potassium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion export across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of delayed rectifier potassium channel activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of heart rate by cardiac conduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of potassium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	ISO Inferred from Sequence Orthology more info
involved_in secretory granule organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle cell action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info
involved_in vestibular nucleus development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	ISO Inferred from Sequence Orthology more info
is_active_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily E member 1

Names: IKs producing slow voltage-gated potassium channel subunit beta Mink; delayed rectifier potassium channel subunit IsK; minimal potassium channel

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001362456.1 → NP_001349385.1 potassium voltage-gated channel subfamily E member 1

Status: VALIDATED

Source sequence(s)

AC162305

Consensus CDS

CCDS28336.1

UniProtKB/Swiss-Prot

P23299

UniProtKB/TrEMBL

Q545H6

Related

ENSMUSP00000130866.2, ENSMUST00000166707.3

Conserved Domains (1) summary

pfam02060
Location:3 → 126

ISK_Channel; Slow voltage-gated potassium channel
NM_008424.3 → NP_032450.1 potassium voltage-gated channel subfamily E member 1

See identical proteins and their annotated locations for NP_032450.1

Status: VALIDATED

Source sequence(s)

AK028907

Consensus CDS

CCDS28336.1

UniProtKB/Swiss-Prot

P23299

UniProtKB/TrEMBL

Q545H6

Related

ENSMUSP00000052248.6, ENSMUST00000051705.7

Conserved Domains (1) summary

pfam02060
Location:3 → 126

ISK_Channel; Slow voltage-gated potassium channel