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Protein

Potassium voltage-gated channel subfamily E regulatory beta subunit 5

Gene

KCNE5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Potassium channel ancillary subunit that is essential for generation of some native K+ currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1.1 Publication

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL
  • potassium channel regulator activity Source: BHF-UCL
  • voltage-gated potassium channel activity Source: InterPro

GO - Biological processi

  • atrial cardiac muscle cell action potential Source: BHF-UCL
  • cardiac muscle contraction Source: BHF-UCL
  • membrane repolarization during cardiac muscle cell action potential Source: GOC
  • negative regulation of potassium ion transmembrane transport Source: BHF-UCL
  • positive regulation of potassium ion transmembrane transport Source: BHF-UCL
  • potassium ion export Source: BHF-UCL
  • potassium ion transmembrane transport Source: BHF-UCL
  • regulation of atrial cardiac muscle cell membrane repolarization Source: BHF-UCL
  • regulation of cation channel activity Source: BHF-UCL
  • regulation of heart contraction Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of membrane repolarization Source: BHF-UCL
  • regulation of potassium ion transmembrane transport Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • ventricular cardiac muscle cell action potential Source: BHF-UCL

Enzyme and pathway databases

ReactomeiR-HSA-5576890 Phase 3 - rapid repolarisation
R-HSA-5576893 Phase 2 - plateau phase

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily E regulatory beta subunit 5
Alternative name(s):
AMME syndrome candidate gene 2 protein
Potassium channel subunit beta MiRP4
Potassium voltage-gated channel subfamily E member 1-like protein1 Publication
Gene namesi
Name:KCNE5
Synonyms:AMMECR2, KCNE1L1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000176076.7
HGNCiHGNC:6241 KCNE5
MIMi300328 gene
neXtProtiNX_Q9UJ90

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei61 – 81HelicalSequence analysisAdd BLAST21
Topological domaini82 – 142CytoplasmicSequence analysisAdd BLAST61

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.1 Publication
Disease descriptionA X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.
See also OMIM:300194

Keywords - Diseasei

Alport syndrome, Deafness, Elliptocytosis, Hereditary hemolytic anemia, Mental retardation

Organism-specific databases

DisGeNETi23630
MalaCardsiKCNE5
MIMi300194 phenotype
OpenTargetsiENSG00000176076
Orphaneti86818 Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis
PharmGKBiPA30031

Polymorphism and mutation databases

BioMutaiKCNE1L

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001442941 – 142Potassium voltage-gated channel subfamily E regulatory beta subunit 5Add BLAST142

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi2N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi25N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9UJ90
PRIDEiQ9UJ90
ProteomicsDBi84602

PTM databases

PhosphoSitePlusiQ9UJ90

Expressioni

Tissue specificityi

Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.1 Publication

Gene expression databases

BgeeiENSG00000176076
CleanExiHS_KCNE1L
GenevisibleiQ9UJ90 HS

Organism-specific databases

HPAiHPA042316

Interactioni

Subunit structurei

Interacts with KCNQ1; impairs KCNQ1 localization in lipid rafts and only conducts current upon strong and continued depolarization.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
SGTBQ96EQ04EBI-11981259,EBI-744081

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi117161, 3 interactors
CORUMiQ9UJ90
IntActiQ9UJ90, 2 interactors
STRINGi9606.ENSP00000361173

Structurei

3D structure databases

ProteinModelPortaliQ9UJ90
SMRiQ9UJ90
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the potassium channel KCNE family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410JC0Y Eukaryota
ENOG4111A5J LUCA
GeneTreeiENSGT00390000012545
HOGENOMiHOG000113204
HOVERGENiHBG052221
InParanoidiQ9UJ90
KOiK04895
OMAiDEPSQAC
OrthoDBiEOG091G0XUW
PhylomeDBiQ9UJ90
TreeFamiTF335981

Family and domain databases

InterProiView protein in InterPro
IPR000369 K_chnl_KCNE
PANTHERiPTHR15282 PTHR15282, 1 hit
PfamiView protein in Pfam
PF02060 ISK_Channel, 1 hit

Sequencei

Sequence statusi: Complete.

Q9UJ90-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNCSESQRLR TLLSRLLLEL HHRGNASGLG AGPRPSMGMG VVPDPFVGRE
60 70 80 90 100
VTSAKGDDAY LYILLIMIFY ACLAGGLILA YTRSRKLVEA KDEPSQACAE
110 120 130 140
HEWAPGGALT ADAEAAAGSQ AEGRRQLASE GLPALAQGAE RV
Length:142
Mass (Da):14,993
Last modified:May 1, 2000 - v1
Checksum:iED8EC611CDE66BFE
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05303733P → S1 PublicationCorresponds to variant dbSNP:rs17003955Ensembl.1
Natural variantiVAR_07267965L → F Found in patients with atrial fibrillation; unknown pathological significance; loss of its inhibitory effects on KCNQ1. 1 Publication1
Natural variantiVAR_07268081Y → H Found in patients with ventricular fibrillation; unknown pathological significance; loss of its inhibitory effects on KCNQ1. 1 PublicationCorresponds to variant dbSNP:rs199924386EnsemblClinVar.1
Natural variantiVAR_034048114E → Q. Corresponds to variant dbSNP:rs41312935Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ012743 mRNA Translation: CAB58359.1
AK314923 mRNA Translation: BAG37431.1
DQ784807 Genomic DNA Translation: ABQ01242.1
EF535525 mRNA Translation: ABQ08564.1
CH471120 Genomic DNA Translation: EAX02676.1
BC035330 mRNA Translation: AAH35330.1
CCDSiCCDS14547.1
RefSeqiNP_036414.1, NM_012282.3
UniGeneiHs.522753

Genome annotation databases

EnsembliENST00000372101; ENSP00000361173; ENSG00000176076
GeneIDi23630
KEGGihsa:23630
UCSCiuc004eoh.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKCNE5_HUMAN
AccessioniPrimary (citable) accession number: Q9UJ90
Secondary accession number(s): Q5JWV7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 13, 2002
Last sequence update: May 1, 2000
Last modified: June 20, 2018
This is version 127 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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