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KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 [ Homo sapiens (human) ]

Gene ID: 3753, updated on 15-Jul-2018
Official Symbol
KCNE1provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily E regulatory subunit 1provided by HGNC
Primary source
HGNC:HGNC:6240
See related
Ensembl:ENSG00000180509 MIM:176261; Vega:OTTHUMG00000086236
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ISK; JLNS; LQT5; MinK; JLNS2; LQT2/5
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]
Expression
Biased expression in heart (RPKM 1.7), kidney (RPKM 1.5) and 7 other tissues See more
Orthologs
See KCNE1 in Genome Data Viewer
Location:
21q22.12
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (34446688..34512275, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (35790910..35884573, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 11A Neighboring gene uncharacterized LOC105372793 Neighboring gene family with sequence similarity 243 member A Neighboring gene small integral membrane protein 34A Neighboring gene VISTA enhancer hs2084 Neighboring gene regulator of calcineurin 1 Neighboring gene chloride intracellular channel 6

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
NHGRI GWA Catalog
Several common variants modulate heart rate, PR interval and QRS duration.
NHGRI GWA Catalog
  • Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
    Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
  • Cardiac conduction, organism-specific biosystem (from REACTOME)
    Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Phase 2 - plateau phase, organism-specific biosystem (from REACTOME)
    Phase 2 - plateau phase, organism-specific biosystemPhase 2 of the cardiac action potential is the plateau phase which is sustained by a balance of Ca2+ influx through L-type Ca2+ channels (LTCCs) and K+ efflux through the slow delayed rectifier K+ ch...
  • Phase 3 - rapid repolarisation, organism-specific biosystem (from REACTOME)
    Phase 3 - rapid repolarisation, organism-specific biosystemIn phase 3 (the "rapid repolarisation" phase), the L-type Ca2+ channels close, while the slow delayed rectifier (IKs) K+ channels remain open as more K+ leak channels open. This ensures a net outward...
  • TarBasePathway, organism-specific biosystem (from WikiPathways)
    TarBasePathway, organism-specific biosystemThis cataloge pathway was created using the database from "http://diana.cslab.ece.ntua.gr/tarbase/" with exclusions based on evidance type. This pathway only incldes miR targeted genes expressed in A...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ18426, FLJ38123, FLJ94103, MGC33114

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cardiac muscle cell action potential involved in contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to cAMP IDA
Inferred from Direct Assay
more info
PubMed 
membrane repolarization IDA
Inferred from Direct Assay
more info
PubMed 
membrane repolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane repolarization during action potential IDA
Inferred from Direct Assay
more info
PubMed 
membrane repolarization during cardiac muscle cell action potential IDA
Inferred from Direct Assay
more info
PubMed 
membrane repolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein targeting to membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion export IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
protein N-linked glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein O-linked glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of delayed rectifier potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane repolarization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of potassium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Z disc ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
lysosome HDA PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
plasma membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IC
Inferred by Curator
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
potassium voltage-gated channel subfamily E member 1
Names
IKs producing slow voltage-gated potassium channel subunit beta Mink
cardiac delayed rectifier potassium channel protein
delayed rectifier potassium channel subunit IsK
minimal potassium channel
potassium channel, voltage gated subfamily E regulatory beta subunit 1
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related subfamily, member 1
voltage gated potassiun channel accessory subunit

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.

Genomic

  1. NG_009091.1 RefSeqGene

    Range
    4041..69628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_290

mRNA and Protein(s)

  1. NM_000219.5NP_000210.2  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_000210.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is the longest transcript. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, BC046224, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316, Q6FHJ6
    Related
    ENSP00000382226.2, OTTHUMP00000108624, ENST00000399286.2, OTTHUMT00000194152
    Conserved Domains (1) summary
    pfam02060
    Location:2126
    ISK_Channel; Slow voltage-gated potassium channel
  2. NM_001127668.3NP_001121140.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001121140.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, BC036452, EU008568, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    A7LFK2, C7S316
    Related
    ENSP00000412498.1, ENST00000432085.5
    Conserved Domains (1) summary
    pfam02060
    Location:2126
    ISK_Channel; Slow voltage-gated potassium channel
  3. NM_001127669.3NP_001121141.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001121141.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, BC036452, EU008569, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    A7LFK2, C7S316
    Related
    ENSP00000382228.3, OTTHUMP00000108623, ENST00000399289.7, OTTHUMT00000194151
    Conserved Domains (1) summary
    pfam02060
    Location:2126
    ISK_Channel; Slow voltage-gated potassium channel
  4. NM_001127670.3NP_001121142.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001121142.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, EU008570, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    A7LFK4, C7S316
    Related
    ENSP00000416258.2, OTTHUMP00000108625, ENST00000416357.6, OTTHUMT00000194153
    Conserved Domains (1) summary
    pfam02060
    Location:2126
    ISK_Channel; Slow voltage-gated potassium channel
  5. NM_001270402.2NP_001257331.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001257331.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, DA418828, DB233067, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316
    Related
    ENSP00000337255.3, ENST00000337385.7
    Conserved Domains (1) summary
    pfam02060
    Location:2126
    ISK_Channel; Slow voltage-gated potassium channel
  6. NM_001270403.2NP_001257332.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001257332.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, DB223354, DB230009, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316
    Related
    ENSP00000382225.1, OTTHUMP00000108626, ENST00000399284.1, OTTHUMT00000194155
    Conserved Domains (1) summary
    pfam02060
    Location:2126
    ISK_Channel; Slow voltage-gated potassium channel
  7. NM_001270404.2NP_001257333.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001257333.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, DA418828, DB214219, DB223354, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316
    Related
    ENSP00000478215.1, ENST00000611936.1
    Conserved Domains (1) summary
    pfam02060
    Location:2126
    ISK_Channel; Slow voltage-gated potassium channel
  8. NM_001270405.2NP_001257334.1  potassium voltage-gated channel subfamily E member 1

    See identical proteins and their annotated locations for NP_001257334.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, compared to variant 2. All variants encode the same protein.
    Source sequence(s)
    AI720140, AP000324, DA806205, KC877871
    Consensus CDS
    CCDS13636.1
    UniProtKB/Swiss-Prot
    P15382
    UniProtKB/TrEMBL
    C7S316
    Related
    ENSP00000483895.1, ENST00000621601.4
    Conserved Domains (1) summary
    pfam02060
    Location:2126
    ISK_Channel; Slow voltage-gated potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    34446688..34512275 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028342.1XP_016883831.1  potassium voltage-gated channel subfamily E member 1 isoform X1

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