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KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 [ Homo sapiens (human) ]

Gene ID: 23630, updated on 12-Oct-2019

Summary

Official Symbol
KCNE5provided by HGNC
Official Full Name
potassium voltage-gated channel subfamily E regulatory subunit 5provided by HGNC
Primary source
HGNC:HGNC:6241
See related
Ensembl:ENSG00000176076 MIM:300328
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
KCNE1L
Summary
This gene encodes a member of a family of single pass transmembrane domain proteins that function as ancillary subunits to voltage-gated potassium channels. Members of this family affect diverse processes in potassium channel regulation, including ion selectivity, voltage dependence, and anterograde recycling from the plasma membrane. Variants of this gene are associated with idiopathic ventricular fibrillation and Brugada syndrome. [provided by RefSeq, Nov 2016]
Orthologs

Genomic context

See KCNE5 in Genome Data Viewer
Location:
Xq23
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (109623700..109625172, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (108866929..108868393, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene nuclear transport factor 2 like export factor 2 Neighboring gene mitofusin-1-like Neighboring gene protein phosphatase 6 catalytic subunit pseudogene Neighboring gene acyl-CoA synthetase long chain family member 4 Neighboring gene uncharacterized LOC105373311

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
atrial cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane repolarization during action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane repolarization during ventricular cardiac muscle cell action potential IEA
Inferred from Electronic Annotation
more info
 
negative regulation of delayed rectifier potassium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of potassium ion export across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of atrial cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of heart contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of heart rate by cardiac conduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of membrane repolarization IDA
Inferred from Direct Assay
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
ventricular cardiac muscle cell action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with voltage-gated potassium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
potassium voltage-gated channel subfamily E regulatory beta subunit 5
Names
AMME syndrome candidate gene 2 protein
AMMECR2 protein
KCNE1-like
cardiac voltage-gated potassium channel accessory subunit 5
potassium channel subunit beta MiRP4
potassium voltage-gated channel subfamily E member 1-like protein
potassium voltage-gated channel, Isk-related family, member 1-like

NCBI Reference Sequences (RefSeq)

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_013241.1 RefSeqGene

    Range
    4993..6465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012282.4NP_036414.1  potassium voltage-gated channel subfamily E regulatory beta subunit 5

    See identical proteins and their annotated locations for NP_036414.1

    Status: REVIEWED

    Source sequence(s)
    AK314923, AL118496, BC035330
    Consensus CDS
    CCDS14547.1
    UniProtKB/Swiss-Prot
    Q9UJ90
    Related
    ENSP00000361173.2, ENST00000372101.3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    109623700..109625172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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