UniProtKB - Q9UJ90 (KCNE5_HUMAN)
Protein
Potassium voltage-gated channel subfamily E regulatory beta subunit 5
Gene
KCNE5
Organism
Homo sapiens (Human)
Status
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 action potential Source: GO_Central
- membrane repolarization during ventricular cardiac muscle cell action potential Source: GOC
- negative regulation of delayed rectifier potassium channel activity Source: GO_Central
- negative regulation of potassium ion export across plasma membrane Source: BHF-UCL
- negative regulation of potassium ion transmembrane transport Source: BHF-UCL
- positive regulation of potassium ion transmembrane transport Source: BHF-UCL
- potassium ion export across plasma membrane Source: GO_Central
- 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
PathwayCommonsi | Q9UJ90 |
Reactomei | R-HSA-5576890, Phase 3 - rapid repolarisation R-HSA-5576893, Phase 2 - plateau phase |
Protein family/group databases
TCDBi | 8.A.10.3.2, the slow voltage-gated k+) channel accessory protein (mink) family |
Names & Taxonomyi
Protein namesi | Recommended name: Potassium voltage-gated channel subfamily E regulatory beta subunit 5Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6241, KCNE5 |
MIMi | 300328, gene |
neXtProti | NX_Q9UJ90 |
VEuPathDBi | HostDB:ENSG00000176076.7 |
Subcellular locationi
Other locations
- Membrane 1 Publication; Single-pass type I membrane protein Curated
Plasma Membrane
- plasma membrane Source: UniProtKB
- voltage-gated potassium channel complex Source: BHF-UCL
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 61 – 81 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 82 – 142 | CytoplasmicSequence analysisAdd BLAST | 61 |
Keywords - Cellular componenti
MembranePathology & 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.
Disease descriptionAn X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.
Related information in OMIMKeywords - Diseasei
Alport syndrome, Deafness, Elliptocytosis, Hereditary hemolytic anemia, Mental retardationOrganism-specific databases
DisGeNETi | 23630 |
GeneReviewsi | KCNE5 |
MalaCardsi | KCNE5 |
MIMi | 300194, phenotype |
OpenTargetsi | ENSG00000176076 |
Orphaneti | 86818, Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 130, Brugada syndrome |
PharmGKBi | PA30031 |
Miscellaneous databases
Pharosi | Q9UJ90, Tbio |
Chemistry databases
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
Genetic variation databases
BioMutai | KCNE5 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144294 | 1 – 142 | Potassium voltage-gated channel subfamily E regulatory beta subunit 5Add BLAST | 142 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 2 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 25 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
PaxDbi | Q9UJ90 |
PeptideAtlasi | Q9UJ90 |
PRIDEi | Q9UJ90 |
ProteomicsDBi | 84602 |
PTM databases
GlyGeni | Q9UJ90, 2 sites |
PhosphoSitePlusi | Q9UJ90 |
Expressioni
Tissue specificityi
Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta.1 Publication
Gene expression databases
Bgeei | ENSG00000176076, Expressed in substantia nigra and 89 other tissues |
Genevisiblei | Q9UJ90, HS |
Organism-specific databases
HPAi | ENSG00000176076, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Interacts with KCNQ1; impairs KCNQ1 localization in lipid rafts and only conducts current upon strong and continued depolarization.
2 PublicationsBinary interactionsi
Hide detailsQ9UJ90
With | #Exp. | IntAct |
---|---|---|
GET3 [O43681] | 3 | EBI-11981259,EBI-2515857 |
PGRMC1 [O00264] | 3 | EBI-11981259,EBI-1045534 |
SGTA [O43765] | 3 | EBI-11981259,EBI-347996 |
SGTB [Q96EQ0] | 3 | EBI-11981259,EBI-744081 |
GO - Molecular functioni
- ion channel binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 117161, 7 interactors |
CORUMi | Q9UJ90 |
IntActi | Q9UJ90, 4 interactors |
STRINGi | 9606.ENSP00000361173 |
Miscellaneous databases
RNActi | Q9UJ90, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the potassium channel KCNE family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502SAHN, Eukaryota |
GeneTreei | ENSGT00940000155001 |
HOGENOMi | CLU_1786304_0_0_1 |
InParanoidi | Q9UJ90 |
OMAi | EPSQACA |
OrthoDBi | 1612727at2759 |
PhylomeDBi | Q9UJ90 |
TreeFami | TF335981 |
Family and domain databases
InterProi | View protein in InterPro IPR000369, K_chnl_KCNE |
PANTHERi | PTHR15282, PTHR15282, 1 hit |
i Sequence
Sequence statusi: Complete.
Q9UJ90-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053037 | 33 | P → S1 PublicationCorresponds to variant dbSNP:rs17003955Ensembl. | 1 | |
Natural variantiVAR_072679 | 65 | L → F Found in patients with atrial fibrillation; unknown pathological significance; loss of its inhibitory effects on KCNQ1. 1 PublicationCorresponds to variant dbSNP:rs1364685385Ensembl. | 1 | |
Natural variantiVAR_072680 | 81 | Y → 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_034048 | 114 | E → 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 |
CCDSi | CCDS14547.1 |
RefSeqi | NP_036414.1, NM_012282.3 |
Genome annotation databases
Ensembli | ENST00000372101; ENSP00000361173; ENSG00000176076 |
GeneIDi | 23630 |
KEGGi | hsa:23630 |
UCSCi | uc004eoh.4, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS14547.1 |
RefSeqi | NP_036414.1, NM_012282.3 |
3D structure databases
SMRi | Q9UJ90 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117161, 7 interactors |
CORUMi | Q9UJ90 |
IntActi | Q9UJ90, 4 interactors |
STRINGi | 9606.ENSP00000361173 |
Chemistry databases
DrugBanki | DB00228, Enflurane DB01110, Miconazole DB01069, Promethazine |
Protein family/group databases
TCDBi | 8.A.10.3.2, the slow voltage-gated k+) channel accessory protein (mink) family |
PTM databases
GlyGeni | Q9UJ90, 2 sites |
PhosphoSitePlusi | Q9UJ90 |
Genetic variation databases
BioMutai | KCNE5 |
Proteomic databases
PaxDbi | Q9UJ90 |
PeptideAtlasi | Q9UJ90 |
PRIDEi | Q9UJ90 |
ProteomicsDBi | 84602 |
Protocols and materials databases
ABCDi | Q9UJ90, 1 sequenced antibody |
Antibodypediai | 51261, 112 antibodies |
DNASUi | 23630 |
Genome annotation databases
Ensembli | ENST00000372101; ENSP00000361173; ENSG00000176076 |
GeneIDi | 23630 |
KEGGi | hsa:23630 |
UCSCi | uc004eoh.4, human |
Organism-specific databases
CTDi | 23630 |
DisGeNETi | 23630 |
GeneCardsi | KCNE5 |
GeneReviewsi | KCNE5 |
HGNCi | HGNC:6241, KCNE5 |
HPAi | ENSG00000176076, Tissue enhanced (brain) |
MalaCardsi | KCNE5 |
MIMi | 300194, phenotype 300328, gene |
neXtProti | NX_Q9UJ90 |
OpenTargetsi | ENSG00000176076 |
Orphaneti | 86818, Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 130, Brugada syndrome |
PharmGKBi | PA30031 |
VEuPathDBi | HostDB:ENSG00000176076.7 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502SAHN, Eukaryota |
GeneTreei | ENSGT00940000155001 |
HOGENOMi | CLU_1786304_0_0_1 |
InParanoidi | Q9UJ90 |
OMAi | EPSQACA |
OrthoDBi | 1612727at2759 |
PhylomeDBi | Q9UJ90 |
TreeFami | TF335981 |
Enzyme and pathway databases
PathwayCommonsi | Q9UJ90 |
Reactomei | R-HSA-5576890, Phase 3 - rapid repolarisation R-HSA-5576893, Phase 2 - plateau phase |
Miscellaneous databases
BioGRID-ORCSi | 23630, 3 hits in 494 CRISPR screens |
GeneWikii | KCNE1L |
GenomeRNAii | 23630 |
Pharosi | Q9UJ90, Tbio |
PROi | PR:Q9UJ90 |
RNActi | Q9UJ90, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000176076, Expressed in substantia nigra and 89 other tissues |
Genevisiblei | Q9UJ90, HS |
Family and domain databases
InterProi | View protein in InterPro IPR000369, K_chnl_KCNE |
PANTHERi | PTHR15282, PTHR15282, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KCNE5_HUMAN | |
Accessioni | Q9UJ90Primary (citable) accession number: Q9UJ90 Secondary accession number(s): Q5JWV7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 13, 2002 |
Last sequence update: | May 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 143 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families