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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: Annotation score: 5 out of 5-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

  1. ion channel binding Source: BHF-UCL
  2. potassium channel regulator activity Source: BHF-UCL

GO - Biological processi

  1. atrial cardiac muscle cell action potential Source: BHF-UCL
  2. cardiac muscle contraction Source: BHF-UCL
  3. membrane repolarization during cardiac muscle cell action potential Source: GOC
  4. negative regulation of potassium ion transmembrane transport Source: BHF-UCL
  5. positive regulation of potassium ion transmembrane transport Source: BHF-UCL
  6. potassium ion export Source: BHF-UCL
  7. potassium ion transmembrane transport Source: BHF-UCL
  8. regulation of atrial cardiac muscle cell membrane repolarization Source: BHF-UCL
  9. regulation of cation channel activity Source: BHF-UCL
  10. regulation of heart contraction Source: BHF-UCL
  11. regulation of heart rate by cardiac conduction Source: BHF-UCL
  12. regulation of membrane repolarization Source: BHF-UCL
  13. regulation of potassium ion transmembrane transport Source: BHF-UCL
  14. regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  15. ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

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
ProteomesiUP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:6241. KCNE5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei61 – 8121HelicalSequence AnalysisAdd
BLAST
Topological domaini82 – 14261CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. voltage-gated potassium channel complex Source: BHF-UCL
Complete GO annotation...

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.

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

MIMi300194. phenotype.
Orphaneti86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBiPA30031.

Polymorphism and mutation databases

BioMutaiKCNE1L.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 142142Potassium voltage-gated channel subfamily E regulatory beta subunit 5PRO_0000144294Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi2 – 21N-linked (GlcNAc...)Sequence Analysis
Glycosylationi25 – 251N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9UJ90.
PRIDEiQ9UJ90.

PTM databases

PhosphoSiteiQ9UJ90.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9UJ90.
CleanExiHS_KCNE1L.
ExpressionAtlasiQ9UJ90. baseline.
GenevestigatoriQ9UJ90.

Organism-specific databases

HPAiHPA042316.

Interactioni

Subunit structurei

Interacts with KCNQ1.1 Publication

Protein-protein interaction databases

BioGridi117161. 1 interaction.
STRINGi9606.ENSP00000361173.

Structurei

3D structure databases

ProteinModelPortaliQ9UJ90.
SMRiQ9UJ90. Positions 1-107.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the potassium channel KCNE family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG44606.
GeneTreeiENSGT00390000012545.
HOGENOMiHOG000113204.
HOVERGENiHBG052221.
InParanoidiQ9UJ90.
KOiK04895.
OMAiREVTSAK.
OrthoDBiEOG7CCBTK.
PhylomeDBiQ9UJ90.
TreeFamiTF335981.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331P → S.1 Publication
Corresponds to variant rs17003955 [ dbSNP | Ensembl ].
VAR_053037
Natural varianti65 – 651L → F Found in patients with atrial fibrillation; unknown pathological significance; loss of its inhibitory effects on KCNQ1. 1 Publication
VAR_072679
Natural varianti81 – 811Y → H Found in patients with ventricular fibrillation; unknown pathological significance; loss of its inhibitory effects on KCNQ1. 1 Publication
VAR_072680
Natural varianti114 – 1141E → Q.
Corresponds to variant rs41312935 [ dbSNP | Ensembl ].
VAR_034048

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_012282.2.
UniGeneiHs.522753.

Genome annotation databases

EnsembliENST00000372101; ENSP00000361173; ENSG00000176076.
GeneIDi23630.
KEGGihsa:23630.
UCSCiuc004eoh.3. human.

Polymorphism and mutation databases

BioMutaiKCNE1L.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS14547.1.
RefSeqiNP_036414.1. NM_012282.2.
UniGeneiHs.522753.

3D structure databases

ProteinModelPortaliQ9UJ90.
SMRiQ9UJ90. Positions 1-107.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117161. 1 interaction.
STRINGi9606.ENSP00000361173.

PTM databases

PhosphoSiteiQ9UJ90.

Polymorphism and mutation databases

BioMutaiKCNE1L.

Proteomic databases

PaxDbiQ9UJ90.
PRIDEiQ9UJ90.

Protocols and materials databases

DNASUi23630.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372101; ENSP00000361173; ENSG00000176076.
GeneIDi23630.
KEGGihsa:23630.
UCSCiuc004eoh.3. human.

Organism-specific databases

CTDi23630.
GeneCardsiGC0XM108866.
HGNCiHGNC:6241. KCNE5.
HPAiHPA042316.
MIMi300194. phenotype.
300328. gene.
neXtProtiNX_Q9UJ90.
Orphaneti86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
PharmGKBiPA30031.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG44606.
GeneTreeiENSGT00390000012545.
HOGENOMiHOG000113204.
HOVERGENiHBG052221.
InParanoidiQ9UJ90.
KOiK04895.
OMAiREVTSAK.
OrthoDBiEOG7CCBTK.
PhylomeDBiQ9UJ90.
TreeFamiTF335981.

Miscellaneous databases

GeneWikiiKCNE1L.
GenomeRNAii23630.
NextBioi46403.
PROiQ9UJ90.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UJ90.
CleanExiHS_KCNE1L.
ExpressionAtlasiQ9UJ90. baseline.
GenevestigatoriQ9UJ90.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs."
    Piccini M., Vitelli F., Seri M., Galietta L.J.V., Moran O., Bulfone A., Banfi S., Pober B., Renieri A.
    Genomics 60:251-257(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Neuron and Placenta.
  2. NHLBI resequencing and genotyping service (RS&G)
    Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Thomas D., Sullivan A.N., Goldstein S.A.
    Submitted (APR-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Heart.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  6. "KCNE5 induces time- and voltage-dependent modulation of the KCNQ1 current."
    Angelo K., Jespersen T., Grunnet M., Nielsen M.S., Klaerke D.A., Olesen S.P.
    Biophys. J. 83:1997-2006(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KCNQ1, FUNCTION.
  7. "Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)."
    Meloni I., Vitelli F., Pucci L., Lowry R.B., Tonlorenzi R., Rossi E., Ventura M., Rizzoni G., Kashtan C.E., Pober B., Renieri A.
    J. Med. Genet. 39:359-365(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE INVOLVEMENT IN ATS-MR.
  8. Cited for: VARIANT SER-33.
  9. Cited for: VARIANT PHE-65, CHARACTERIZATION OF VARIANT PHE-65.
  10. "KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation."
    Ohno S., Zankov D.P., Ding W.G., Itoh H., Makiyama T., Doi T., Shizuta S., Hattori T., Miyamoto A., Naiki N., Hancox J.C., Matsuura H., Horie M.
    Circ. Arrhythm. Electrophysiol. 4:352-361(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HIS-81, CHARACTERIZATION OF VARIANT HIS-81.

Entry informationi

Entry nameiKCNE5_HUMAN
AccessioniPrimary (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: April 29, 2015
This is version 104 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.